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<title>
Entry
- #619764 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H
- OMIM
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<span class="h4">#619764</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/619764"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS118220"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
<a href="#references"><strong>References</strong></a>
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<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE) OR (FBLN5)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=619764[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
619764
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CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H
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<em>Alternative titles; symbols</em>
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<h4>
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HEREDITARY MOTOR AND SENSORY NEUROPATHY, IH<br />
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1H<br />
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
<a href="/geneMap/14/464?start=-3&limit=10&highlight=464">
14q32.12
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Charcot-Marie-Tooth disease, demyelinating, type 1H
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<a href="/entry/619764"> 619764 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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FBLN5
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<a href="/entry/604580"> 604580 </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/619764" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/619764" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="h5 mim-font">
<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
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<span class="h5 mim-font">
<em> Eyes </em>
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<span class="mim-font">
- Age-related macular degeneration (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267718000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267718000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242383</a>]</span><br />
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<strong> SKELETAL </strong>
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<span class="mim-font">
- Joint hypermobility (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br />
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<span class="h5 mim-font">
<em> Feet </em>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Foot deformities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229844004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229844004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span><br />
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<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
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<span class="h5 mim-font">
<em> Skin </em>
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<span class="mim-font">
- Hyperelastic skin (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241074&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241074</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000974" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000974</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000974" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000974</a>]</span><br />
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<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
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<span class="mim-font">
- Distal muscle weakness due to peripheral neuropathy, lower limbs more affected than upper limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230253&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230253</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249942005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span><br /> -
Distal muscle atrophy due to peripheral neuropathy, lower limbs more affected than upper limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230252&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span><br />
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<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
<em> Peripheral Nervous System </em>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Peripheral neuropathy, demyelinating (upper and lower limb involvement) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678346</a>]</span><br /> -
Distal sensory impairment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847584&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847584</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span><br /> -
Unpleasant sensation in the upper limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678347</a>]</span><br /> -
Impaired gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br /> -
Decreased deep tendon reflexes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span><br /> -
Decreased nerve conduction velocities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857640&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857640</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000762</a>]</span><br /> -
Loss of myelinated fibers seen on sural nerve biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4014944&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4014944</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003380" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003380</a>]</span><br /> -
Onion bulb formations <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847906&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847906</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003383" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003383</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003383" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003383</a>]</span><br /> -
Poorly myelinated axons <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678348&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678348</a>]</span><br /> -
Axonal features (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678349</a>]</span><br />
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<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Adult onset (median age 39 years) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span><br /> -
Both upper and lower limbs are involved<br /> -
Slowly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the fibulin 5 gene (FBLN5, <a href="/entry/604580#0012">604580.0012</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Charcot-Marie-Tooth disease
- <a href="/phenotypicSeries/PS118220">PS118220</a>
- 82 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/100?start=-3&limit=10&highlight=100"> 1p36.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615376"> Charcot-Marie-Tooth disease, recessive intermediate C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615376"> 615376 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611101"> PLEKHG5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611101"> 611101 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/135?start=-3&limit=10&highlight=135"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118210"> Charcot-Marie-Tooth disease, type 2A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118210"> 118210 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605995"> KIF1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605995"> 605995 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601152"> Hereditary motor and sensory neuropathy VIA </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601152"> 601152 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> MFN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> 608507 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617087"> Charcot-Marie-Tooth disease, axonal, type 2A2B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617087"> 617087 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> MFN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> 608507 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609260"> Charcot-Marie-Tooth disease, axonal, type 2A2A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609260"> 609260 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> MFN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> 608507 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/406?start=-3&limit=10&highlight=406"> 1p35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608323"> Charcot-Marie-Tooth disease, dominant intermediate C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608323"> 608323 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603623"> YARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603623"> 603623 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/954?start=-3&limit=10&highlight=954"> 1p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618036"> Charcot-Marie-Tooth disease, axonal, type 2DD </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618036"> 618036 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182310"> ATP1A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182310"> 182310 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240"> 1q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605588"> Charcot-Marie-Tooth disease, type 2B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605588"> 605588 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> LMNA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> 150330 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1292?start=-3&limit=10&highlight=1292"> 1q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619519"> Charcot-Marie-Tooth disease, axonal, type 2FF </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619519"> 619519 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609743"> CADM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609743"> 609743 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607736"> Charcot-Marie-Tooth disease, type 2J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607736"> 607736 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118200"> Charcot-Marie-Tooth disease, type 1B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118200"> 118200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607677"> Charcot-Marie-Tooth disease, type 2I </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607677"> 607677 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607791"> Charcot-Marie-Tooth disease, dominant intermediate D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607791"> 607791 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/131?start=-3&limit=10&highlight=131"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618400"> Charcot-Marie-Tooth disease, axonal, type 2EE </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618400"> 618400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137960"> MPV17 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137960"> 137960 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/654?start=-3&limit=10&highlight=654"> 3q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600882"> Charcot-Marie-Tooth disease, type 2B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600882"> 600882 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602298"> RAB7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602298"> 602298 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/798?start=-3&limit=10&highlight=798"> 3q25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617017"> Charcot-Marie-Tooth disease, axonal, type 2T </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617017"> 617017 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120520"> MME </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120520"> 120520 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/880?start=-3&limit=10&highlight=880"> 3q26.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615185"> Charcot-Marie-Tooth disease, dominant intermediate F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615185"> 615185 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610863"> GNB4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610863"> 610863 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/611?start=-3&limit=10&highlight=611"> 4q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615490"> Charcot-Marie-Tooth disease, type 2R </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615490"> 615490 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614141"> TRIM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614141"> 614141 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/544?start=-3&limit=10&highlight=544"> 5q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616625"> Charcot-Marie-Tooth disease, axonal, type 2W </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616625"> 616625 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142810"> HARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142810"> 142810 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/646?start=-3&limit=10&highlight=646"> 5q32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601596"> Charcot-Marie-Tooth disease, type 4C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601596"> 601596 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608206"> SH3TC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608206"> 608206 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/405?start=-3&limit=10&highlight=405"> 6p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620111"> Charcot-Marie-Tooth disease, demyelinating, type 1J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620111"> 620111 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147267"> ITPR3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147267"> 147267 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/769?start=-3&limit=10&highlight=769"> 6q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611228"> Charcot-Marie-Tooth disease, type 4J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611228"> 611228 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609390"> FIG4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609390"> 609390 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/165?start=-3&limit=10&highlight=165"> 7p14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601472"> Charcot-Marie-Tooth disease, type 2D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601472"> 601472 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600287"> GARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600287"> 600287 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/355?start=-3&limit=10&highlight=355"> 7q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606595"> Charcot-Marie-Tooth disease, axonal, type 2F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606595"> 606595 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602195"> HSPB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602195"> 602195 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607684"> Charcot-Marie-Tooth disease, type 2E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607684"> 607684 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> NEFL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> 162280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607734"> Charcot-Marie-Tooth disease, type 1F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607734"> 607734 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> NEFL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> 162280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617882"> Charcot-Marie-Tooth disease, dominant intermediate G </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617882"> 617882 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> NEFL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> 162280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/304?start=-3&limit=10&highlight=304"> 8q13-q23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> Charcot-Marie-Tooth disease, axonal, type 2H </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> 607731 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> CMT2H </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> 607731 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/350?start=-3&limit=10&highlight=350"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> {?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, modifier of} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> 607831 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605266"> JPH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605266"> 605266 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> Charcot-Marie-Tooth disease, axonal, type 2K </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> 607831 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214400"> Charcot-Marie-Tooth disease, type 4A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214400"> 214400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608340"> Charcot-Marie-Tooth disease, recessive intermediate, A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608340"> 608340 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607706"> Charcot-Marie-Tooth disease, axonal, with vocal cord paresis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607706"> 607706 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/366?start=-3&limit=10&highlight=366"> 8q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618279"> Charcot-Marie-Tooth disease, demyelinating, type 1G </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618279"> 618279 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170715"> PMP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170715"> 170715 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/570?start=-3&limit=10&highlight=570"> 8q24.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601455"> Charcot-Marie-Tooth disease, type 4D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601455"> 601455 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605262"> NDRG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605262"> 605262 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/160?start=-3&limit=10&highlight=160"> 9p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616687"> Charcot-Marie-Tooth disease, type 2Y </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616687"> 616687 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601023"> VCP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601023"> 601023 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/512?start=-3&limit=10&highlight=512"> 9q33.3-q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614436"> Charcot-Marie-Tooth disease, axonal, type 2P </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614436"> 614436 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610933"> LRSAM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610933"> 610933 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/612?start=-3&limit=10&highlight=612"> 9q34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616684"> Charcot-Marie-Tooth disease, type 4K </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616684"> 616684 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185620"> SURF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185620"> 185620 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/53?start=-3&limit=10&highlight=53"> 10p14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615025"> ?Charcot-Marie-Tooth disease, axonal, type 2Q </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615025"> 615025 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614984"> DHTKD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614984"> 614984 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605253"> Hypomyelinating neuropathy, congenital, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605253"> 605253 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> EGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> 129010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607678"> Charcot-Marie-Tooth disease, type 1D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607678"> 607678 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> EGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> 129010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> EGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> 129010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/260?start=-3&limit=10&highlight=260"> 10q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605285"> Neuropathy, hereditary motor and sensory, Russe type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605285"> 605285 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142600"> HK1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142600"> 142600 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/513?start=-3&limit=10&highlight=513"> 10q24.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606483"> Charcot-Marie-Tooth disease, axonal, type 2GG </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606483"> 606483 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603698"> GBF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603698"> 603698 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621095"> Charcot-Marie-Tooth disease, axonal, type 2JJ </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621095"> 621095 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> BAG3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/171?start=-3&limit=10&highlight=171"> 11p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604563"> Charcot-Marie-Tooth disease, type 4B2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604563"> 604563 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607697"> SBF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607697"> 607697 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/690?start=-3&limit=10&highlight=690"> 11q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616155"> Charcot-Marie-Tooth disease, axonal, type 2S </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616155"> 616155 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600502"> IGHMBP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600502"> 600502 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/849?start=-3&limit=10&highlight=849"> 11q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601382"> Charcot-Marie-Tooth disease, type 4B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601382"> 601382 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603557"> MTMR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603557"> 603557 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/278?start=-3&limit=10&highlight=278"> 12p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609311"> Charcot-Marie-Tooth disease, type 4H </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609311"> 609311 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611104"> FGD4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611104"> 611104 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/542?start=-3&limit=10&highlight=542"> 12q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616280"> Charcot-Marie-Tooth disease, axonal, type 2U </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616280"> 616280 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156560"> MARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156560"> 156560 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/757?start=-3&limit=10&highlight=757"> 12q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619742"> Charcot-Marie-Tooth disease, demyelinating, type 1I </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619742"> 619742 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614366"> POLR3B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614366"> 614366 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606071"> Hereditary motor and sensory neuropathy, type IIc </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606071"> 606071 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> TRPV4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/858?start=-3&limit=10&highlight=858"> 12q24.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608673"> Charcot-Marie-Tooth disease, axonal, type 2L </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608673"> 608673 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> HSPB8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> 608014 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/873?start=-3&limit=10&highlight=873"> 12q24.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616039"> Charcot-Marie-Tooth disease, recessive intermediate D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616039"> 616039 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602072"> COX6A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602072"> 602072 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/464?start=-3&limit=10&highlight=464"> 14q32.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619764"> Charcot-Marie-Tooth disease, demyelinating, type 1H </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619764"> 619764 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604580"> FBLN5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604580"> 604580 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/559?start=-3&limit=10&highlight=559"> 14q32.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614228"> Charcot-Marie-Tooth disease, axonal, type 2O </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614228"> 614228 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600112"> DYNC1H1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600112"> 600112 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/590?start=-3&limit=10&highlight=590"> 14q32.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614455"> Charcot-Marie-Tooth disease, dominant intermediate E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614455"> 614455 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610982"> INF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610982"> 610982 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/71?start=-3&limit=10&highlight=71"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620068"> Charcot-Marie-Tooth disease, axonal, type 2II </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620068"> 620068 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604878"> SLC12A6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604878"> 604878 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/168?start=-3&limit=10&highlight=168"> 15q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616668"> Charcot-Marie-Tooth disease, axonal, type 2X </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616668"> 616668 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610844"> SPG11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610844"> 610844 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/195?start=-3&limit=10&highlight=195"> 16p13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601098"> Charcot-Marie-Tooth disease, type 1C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601098"> 601098 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603795"> LITAF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603795"> 603795 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/603?start=-3&limit=10&highlight=603"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613287"> Charcot-Marie-Tooth disease, axonal, type 2N </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613287"> 613287 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601065"> AARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601065"> 601065 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/655?start=-3&limit=10&highlight=655"> 16q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613641"> ?Charcot-Marie-Tooth disease, recessive intermediate, B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613641"> 613641 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601421"> KARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601421"> 601421 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118220"> Charcot-Marie-Tooth disease, type 1A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118220"> 118220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> PMP22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> 601097 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> PMP22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> 601097 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118300"> Charcot-Marie-Tooth disease, type 1E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118300"> 118300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> PMP22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> 601097 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/579?start=-3&limit=10&highlight=579"> 17q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616491"> ?Charcot-Marie-Tooth disease, axonal, type 2V </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616491"> 616491 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609701"> NAGLU </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609701"> 609701 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/281?start=-3&limit=10&highlight=281"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> Charcot-Marie-Tooth disease, dominant intermediate B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> 606482 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> DNM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> 602378 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/281?start=-3&limit=10&highlight=281"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> Charcot-Marie-Tooth disease, axonal type 2M </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> 606482 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> DNM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> 602378 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/702?start=-3&limit=10&highlight=702"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> PRX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> 605725 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/702?start=-3&limit=10&highlight=702"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614895"> Charcot-Marie-Tooth disease, type 4F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614895"> 614895 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> PRX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> 605725 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/967?start=-3&limit=10&highlight=967"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605589"> ?Charcot-Marie-Tooth disease, type 2B2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605589"> 605589 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605610"> PNKP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605610"> 605610 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/99?start=-3&limit=10&highlight=99"> 20p12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619574"> Charcot-Marie-Tooth disease, axonal, type 2HH </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619574"> 619574 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601920"> JAG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601920"> 601920 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/152?start=-3&limit=10&highlight=152"> 22q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616924"> Charcot-Marie-Tooth disease, axonal, type 2CC </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616924"> 616924 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162230"> NEFH </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162230"> 162230 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/177?start=-3&limit=10&highlight=177"> 22q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616688"> Charcot-Marie-Tooth disease, axonal, type 2Z </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616688"> 616688 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616661"> MORC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616661"> 616661 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/412?start=-3&limit=10&highlight=412"> 22q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615284"> Charcot-Marie-Tooth disease, type 4B3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615284"> 615284 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603560"> SBF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603560"> 603560 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/47?start=-3&limit=10&highlight=47"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302801"> Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302801"> 302801 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302801"> CMTX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302801"> 302801 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/126?start=-3&limit=10&highlight=126"> Xp22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300905"> ?Charcot-Marie-Tooth disease, X-linked dominant, 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300905"> 300905 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300906"> PDK3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300906"> 300906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/406?start=-3&limit=10&highlight=406"> Xq13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302800"> Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302800"> 302800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/304040"> GJB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/304040"> 304040 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/552?start=-3&limit=10&highlight=552"> Xq22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311070"> Charcot-Marie-Tooth disease, X-linked recessive, 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311070"> 311070 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311850"> PRPS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311850"> 311850 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/662?start=-3&limit=10&highlight=662"> Xq26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302802"> Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302802"> 302802 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302802"> CMTX3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302802"> 302802 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/675?start=-3&limit=10&highlight=675"> Xq26.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/310490"> Cowchock syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/310490"> 310490 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300169"> AIFM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300169"> 300169 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that demyelinating Charcot-Marie-Tooth disease-1H (CMT1H) is caused by heterozygous mutation in the gene encoding fibulin-5 (FBLN5; <a href="/entry/604580">604580</a>) on chromosome 14q32.</p><p>Heterozygous mutation in the FBLN5 gene can also cause autosomal dominant cutis laxa-2 (ADCL2; <a href="/entry/614434">614434</a>) and isolated age-related macular degeneration-3 (ARMD3; <a href="/entry/608895">608895</a>). Skin laxity and ARMD may rarely occur in patients with CMT1H.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
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<p>Demyelinating Charcot-Marie-Tooth disease-1H (CMT1H) is an autosomal dominant peripheral sensorimotor neuropathy with onset usually in adulthood (third to fifth decades). Affected individuals present with foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Of note, many patients complain of unpleasant sensory sensations in the upper extremities and hands. The disorder is slowly progressive and becomes more apparent with age, although patients usually remain ambulatory. Other features include hypo- or areflexia, limb muscle weakness, and impaired gait. Electrophysiologic studies are consistent with a demyelinating polyneuropathy. Rare patients may have hyperelastic skin or develop age-related macular degeneration (summary by <a href="#1" class="mim-tip-reference" title="Auer-Grumbach, M., Weger, M., Fink-Puches, R., Papic, L., Frohlich, E., Auer-Grumbach, P., El Shabrawi-Caelen, L., Schabhuttl, M., Windpassinger, E., Senderek, J., Budka, H., Trajanoski, S., Janecke, A. R., Haas, A., Metze, D., Pieber, T. R., Guelly, C. &lt;strong&gt;Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.&lt;/strong&gt; Brain 134: 1839-1852, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21576112/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21576112&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21576112[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awr076&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21576112">Auer-Grumbach et al., 2011</a> and <a href="#4" class="mim-tip-reference" title="Safka Brozkova, D., Stojkovic, T., Haberlova, J., Mazanec, R., Windhager, R., Fernandes Rosenegger, P., Hacker, S., Zuchner, S., Kochanski, A., Leonard-Louis, S., Francou, B., Latour, P., Senderek, J., Seeman, P., Auer-Grumbach, M. &lt;strong&gt;Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.&lt;/strong&gt; Europ. J. Neurol. 27: 2568-2574, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32757322/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32757322&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/ene.14463&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32757322">Safka Brozkova et al., 2020</a>) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21576112+32757322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (<a href="/entry/118200">118200</a>).</p>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Auer-Grumbach, M., Weger, M., Fink-Puches, R., Papic, L., Frohlich, E., Auer-Grumbach, P., El Shabrawi-Caelen, L., Schabhuttl, M., Windpassinger, E., Senderek, J., Budka, H., Trajanoski, S., Janecke, A. R., Haas, A., Metze, D., Pieber, T. R., Guelly, C. &lt;strong&gt;Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.&lt;/strong&gt; Brain 134: 1839-1852, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21576112/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21576112&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21576112[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awr076&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21576112">Auer-Grumbach et al. (2011)</a> reported a large Austrian kindred (families A and B) in which multiple individuals spanning several generations had demyelinating CMT. Eight patients were studied in detail. The severity of the phenotype was variable, but common features included distal muscle weakness and atrophy variably affecting the lower and upper limbs and distal sensory impairment. The age at onset ranged from 25 to 50 years. Most patients had hypo- or areflexia, and several had symptoms consistent with carpal tunnel syndrome. None had hyperelastic skin, and only the oldest patient had age-related macular degeneration at age 81 years. Electrophysiologic studies performed in some patients showed decreased nerve conduction velocities, consistent with a demyelinating peripheral neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21576112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Another family (family C) with 5 members reported by <a href="#1" class="mim-tip-reference" title="Auer-Grumbach, M., Weger, M., Fink-Puches, R., Papic, L., Frohlich, E., Auer-Grumbach, P., El Shabrawi-Caelen, L., Schabhuttl, M., Windpassinger, E., Senderek, J., Budka, H., Trajanoski, S., Janecke, A. R., Haas, A., Metze, D., Pieber, T. R., Guelly, C. &lt;strong&gt;Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.&lt;/strong&gt; Brain 134: 1839-1852, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21576112/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21576112&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21576112[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awr076&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21576112">Auer-Grumbach et al. (2011)</a> had more variable manifestation of a peripheral neuropathy. Two brothers had early onset of spinal CMT at age 4. They had severe distal muscle weakness and wasting predominantly of the lower limbs without sensory impairment. In addition, they both had hyperelastic skin, joint hypermobility, high palate, and mild skeletal abnormalities; neither had macular degeneration at 19 and 21 years of age. Nerve conduction velocities suggested an axonal neuropathy, and EMG showed chronic neurogenic disturbances, but sural nerve biopsy was normal. Family studies identified a parent, grand-aunt, and grandparent who had mild peripheral neuropathy and hyporeflexia. The parent also had hyperelastic skin, whereas the grand-aunt had ARMD at age 71 years. In a third family (family D), a 46-year-old proband had spinal CMT with onset at age 20 and hyperelastic skin. The father was asymptomatic but had evidence of a mild peripheral neuropathy of the lower limbs; he also had ARMD at age 82 years. Six additional patients with sporadic occurrence of ARMD who were over the age of 79 years were subsequently found to have variable features of peripheral neuropathy, and 2 patients in their eighties had sporadic peripheral neuropathy without ARMD. <a href="#1" class="mim-tip-reference" title="Auer-Grumbach, M., Weger, M., Fink-Puches, R., Papic, L., Frohlich, E., Auer-Grumbach, P., El Shabrawi-Caelen, L., Schabhuttl, M., Windpassinger, E., Senderek, J., Budka, H., Trajanoski, S., Janecke, A. R., Haas, A., Metze, D., Pieber, T. R., Guelly, C. &lt;strong&gt;Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.&lt;/strong&gt; Brain 134: 1839-1852, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21576112/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21576112&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21576112[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awr076&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21576112">Auer-Grumbach et al. (2011)</a> concluded that the overall phenotype in these patients represented a novel syndrome associated with FBLN5 gene mutations, including presence of peripheral neuropathy with or without ARMD and occasionally hyperelastic skin, with intrafamilial variability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21576112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Safka Brozkova, D., Lassuthova, P., Neupauerova, J., Krutova, M., Haberlova, J., Stejskal, D., Seeman, P. &lt;strong&gt;Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy. (Letter)&lt;/strong&gt; Brain 136: e232, 2013. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23328402/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23328402&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/aws333&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23328402">Safka Brozkova et al. (2013)</a> reported a large family of Czech descent with CMT1H. Affected individuals had onset in their twenties of distal muscle atrophy and weakness affecting mainly the lower limbs, with some patients having weakness of the upper limbs. Two older patients reported distal sensory impairment. Some younger patients were clinically asymptomatic, but electrophysiologic studies indicated a demyelinating peripheral neuropathy. Patellar reflexes were decreased or absent in all patients. None had hyperelastic skin or ARMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23328402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Cheng, S., Lv, H., Zhang, W., Wang, Z., Shi, X., Liang, W., Yuan, Y. &lt;strong&gt;Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation.&lt;/strong&gt; Clin. Neuropath. 36: 171-177, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28332470/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28332470&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=28332470[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.5414/NP301011&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28332470">Cheng et al. (2017)</a> reported a Chinese family with CMT1H. The 46-year-old proband developed distal numbness and muscle weakness at age 34 years when he was also diagnosed with diabetes mellitus. The neurologic disorder was slowly progressive, and he developed gait difficulties and distal sensory impairment of several modalities in both the lower and upper limbs. Other features included hypo- or areflexia, steppage gait, and atrophy of the distal muscles of the upper and lower limbs. The disorder remained essentially static over about 10 years. The patient's 81-year-old mother had a mild peripheral neuropathy with distal sensory impairment, areflexia, and pes cavus; she developed age-related macular degeneration and cataract of the right eye. The proband's 16-year-old daughter had no clinical symptoms, although deep tendon reflexes were absent. Electrophysiologic studies in all 3 patients were indicative of a demyelinating sensorimotor neuropathy with more prominent findings in the proband, who was the most severely affected. Ultrasound detected abnormally enlarged nerves, and sural nerve biopsy of the proband showed a decrease in myelinated fibers as well as the presence of onion bulb formations and poorly myelinated axons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28332470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Safka Brozkova, D., Stojkovic, T., Haberlova, J., Mazanec, R., Windhager, R., Fernandes Rosenegger, P., Hacker, S., Zuchner, S., Kochanski, A., Leonard-Louis, S., Francou, B., Latour, P., Senderek, J., Seeman, P., Auer-Grumbach, M. &lt;strong&gt;Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.&lt;/strong&gt; Europ. J. Neurol. 27: 2568-2574, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32757322/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32757322&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/ene.14463&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32757322">Safka Brozkova et al. (2020)</a> reported 38 affected individuals from 19 families with CMT1H confirmed by genetic analysis. The families were of Austrian, Czech, French, and German origin; 3 of the families had previously been reported. Most patients were diagnosed between the third and fifth decades (median 39 years of age), and the presenting features included foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Of note, many patients complained of unpleasant sensory sensations in the upper extremities and hands. In retrospect, many patients had foot deformities since childhood, but had no physical limitations at that time. The disorder was slowly progressive and became more apparent with age, although all remained ambulatory and had purposeful hand use. Several younger individuals carrying the mutation were clinically asymptomatic, although decreased reflexes and foot deformities were noted. None had hyperelastic skin; 1 patient had age-related macular degeneration at age 81. Electrophysiologic studies were consistent with a demyelinating polyneuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32757322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of CMT1H in the families reported by <a href="#1" class="mim-tip-reference" title="Auer-Grumbach, M., Weger, M., Fink-Puches, R., Papic, L., Frohlich, E., Auer-Grumbach, P., El Shabrawi-Caelen, L., Schabhuttl, M., Windpassinger, E., Senderek, J., Budka, H., Trajanoski, S., Janecke, A. R., Haas, A., Metze, D., Pieber, T. R., Guelly, C. &lt;strong&gt;Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.&lt;/strong&gt; Brain 134: 1839-1852, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21576112/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21576112&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21576112[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awr076&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21576112">Auer-Grumbach et al. (2011)</a> and <a href="#3" class="mim-tip-reference" title="Safka Brozkova, D., Lassuthova, P., Neupauerova, J., Krutova, M., Haberlova, J., Stejskal, D., Seeman, P. &lt;strong&gt;Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy. (Letter)&lt;/strong&gt; Brain 136: e232, 2013. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23328402/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23328402&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/aws333&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23328402">Safka Brozkova et al. (2013)</a> was consistent with autosomal dominant inheritance with variable expressivity and age-dependent penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23328402+21576112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 3 families with CMT1H, <a href="#1" class="mim-tip-reference" title="Auer-Grumbach, M., Weger, M., Fink-Puches, R., Papic, L., Frohlich, E., Auer-Grumbach, P., El Shabrawi-Caelen, L., Schabhuttl, M., Windpassinger, E., Senderek, J., Budka, H., Trajanoski, S., Janecke, A. R., Haas, A., Metze, D., Pieber, T. R., Guelly, C. &lt;strong&gt;Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.&lt;/strong&gt; Brain 134: 1839-1852, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21576112/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21576112&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21576112[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awr076&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21576112">Auer-Grumbach et al. (2011)</a> identified 3 different heterozygous missense mutations in the FBLN5 gene (<a href="/entry/604580#0012">604580.0012</a>-<a href="/entry/604580#0014">604580.0014</a>). Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21576112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Safka Brozkova, D., Lassuthova, P., Neupauerova, J., Krutova, M., Haberlova, J., Stejskal, D., Seeman, P. &lt;strong&gt;Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy. (Letter)&lt;/strong&gt; Brain 136: e232, 2013. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23328402/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23328402&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/aws333&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23328402">Safka Brozkova et al. (2013)</a> identified a heterozygous missense mutation in the FBLN5 gene (R373C; <a href="/entry/604580#0012">604580.0012</a>) in affected members of a Czech family with CMT1H. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23328402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 affected members spanning 3 generations of a Chinese family with CMT1H, <a href="#2" class="mim-tip-reference" title="Cheng, S., Lv, H., Zhang, W., Wang, Z., Shi, X., Liang, W., Yuan, Y. &lt;strong&gt;Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation.&lt;/strong&gt; Clin. Neuropath. 36: 171-177, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28332470/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28332470&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=28332470[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.5414/NP301011&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28332470">Cheng et al. (2017)</a> identified a heterozygous R373C mutation in the FBLN5 gene (<a href="/entry/604580#0012">604580.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28332470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 19 families with CMT1H, some of whom had previously been reported, <a href="#4" class="mim-tip-reference" title="Safka Brozkova, D., Stojkovic, T., Haberlova, J., Mazanec, R., Windhager, R., Fernandes Rosenegger, P., Hacker, S., Zuchner, S., Kochanski, A., Leonard-Louis, S., Francou, B., Latour, P., Senderek, J., Seeman, P., Auer-Grumbach, M. &lt;strong&gt;Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.&lt;/strong&gt; Europ. J. Neurol. 27: 2568-2574, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32757322/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32757322&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/ene.14463&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32757322">Safka Brozkova et al. (2020)</a> identified 3 different heterozygous missense mutations in the FBLN5 gene. R373C (<a href="/entry/604580#0012">604580.0012</a>) was the most common mutation, occurring in 15 families of Austrian, Czech, and French origin. Three families of Czech or German origin carried a heterozygous R331H mutation (<a href="/entry/604580#0015">604580.0015</a>), and 1 French family carried a D329V mutation (<a href="/entry/604580#0016">604580.0016</a>). The mutations, which were detected by Sanger sequencing, multigene panel sequencing, or whole-exome sequencing, segregated with the disorder in families from whom DNA was available for the affected members. Functional studies of the variants were not performed, but they were either absent from or found only once in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32757322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="1" class="mim-anchor"></a>
<a id="Auer-Grumbach2011" class="mim-anchor"></a>
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Auer-Grumbach, M., Weger, M., Fink-Puches, R., Papic, L., Frohlich, E., Auer-Grumbach, P., El Shabrawi-Caelen, L., Schabhuttl, M., Windpassinger, E., Senderek, J., Budka, H., Trajanoski, S., Janecke, A. R., Haas, A., Metze, D., Pieber, T. R., Guelly, C.
<strong>Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.</strong>
Brain 134: 1839-1852, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21576112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21576112</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21576112[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21576112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/brain/awr076" target="_blank">Full Text</a>]
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<a id="Cheng2017" class="mim-anchor"></a>
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Cheng, S., Lv, H., Zhang, W., Wang, Z., Shi, X., Liang, W., Yuan, Y.
<strong>Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation.</strong>
Clin. Neuropath. 36: 171-177, 2017.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28332470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28332470</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28332470[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28332470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.5414/NP301011" target="_blank">Full Text</a>]
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Safka Brozkova, D., Lassuthova, P., Neupauerova, J., Krutova, M., Haberlova, J., Stejskal, D., Seeman, P.
<strong>Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy. (Letter)</strong>
Brain 136: e232, 2013. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23328402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23328402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23328402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/brain/aws333" target="_blank">Full Text</a>]
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<a id="Safka Brozkova2020" class="mim-anchor"></a>
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Safka Brozkova, D., Stojkovic, T., Haberlova, J., Mazanec, R., Windhager, R., Fernandes Rosenegger, P., Hacker, S., Zuchner, S., Kochanski, A., Leonard-Louis, S., Francou, B., Latour, P., Senderek, J., Seeman, P., Auer-Grumbach, M.
<strong>Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.</strong>
Europ. J. Neurol. 27: 2568-2574, 2020.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32757322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32757322</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32757322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/ene.14463" target="_blank">Full Text</a>]
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alopez : 03/02/2022
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alopez : 03/02/2022<br>ckniffin : 02/24/2022
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<strong>#</strong> 619764
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CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H
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HEREDITARY MOTOR AND SENSORY NEUROPATHY, IH<br />
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1H<br />
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD
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<strong>Phenotype-Gene Relationships</strong>
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Inheritance
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14q32.12
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Charcot-Marie-Tooth disease, demyelinating, type 1H
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619764
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Autosomal dominant
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3
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FBLN5
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604580
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that demyelinating Charcot-Marie-Tooth disease-1H (CMT1H) is caused by heterozygous mutation in the gene encoding fibulin-5 (FBLN5; 604580) on chromosome 14q32.</p><p>Heterozygous mutation in the FBLN5 gene can also cause autosomal dominant cutis laxa-2 (ADCL2; 614434) and isolated age-related macular degeneration-3 (ARMD3; 608895). Skin laxity and ARMD may rarely occur in patients with CMT1H.</p>
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<strong>Description</strong>
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<p>Demyelinating Charcot-Marie-Tooth disease-1H (CMT1H) is an autosomal dominant peripheral sensorimotor neuropathy with onset usually in adulthood (third to fifth decades). Affected individuals present with foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Of note, many patients complain of unpleasant sensory sensations in the upper extremities and hands. The disorder is slowly progressive and becomes more apparent with age, although patients usually remain ambulatory. Other features include hypo- or areflexia, limb muscle weakness, and impaired gait. Electrophysiologic studies are consistent with a demyelinating polyneuropathy. Rare patients may have hyperelastic skin or develop age-related macular degeneration (summary by Auer-Grumbach et al., 2011 and Safka Brozkova et al., 2020) </p><p>For a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).</p>
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<strong>Clinical Features</strong>
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<p>Auer-Grumbach et al. (2011) reported a large Austrian kindred (families A and B) in which multiple individuals spanning several generations had demyelinating CMT. Eight patients were studied in detail. The severity of the phenotype was variable, but common features included distal muscle weakness and atrophy variably affecting the lower and upper limbs and distal sensory impairment. The age at onset ranged from 25 to 50 years. Most patients had hypo- or areflexia, and several had symptoms consistent with carpal tunnel syndrome. None had hyperelastic skin, and only the oldest patient had age-related macular degeneration at age 81 years. Electrophysiologic studies performed in some patients showed decreased nerve conduction velocities, consistent with a demyelinating peripheral neuropathy. </p><p>Another family (family C) with 5 members reported by Auer-Grumbach et al. (2011) had more variable manifestation of a peripheral neuropathy. Two brothers had early onset of spinal CMT at age 4. They had severe distal muscle weakness and wasting predominantly of the lower limbs without sensory impairment. In addition, they both had hyperelastic skin, joint hypermobility, high palate, and mild skeletal abnormalities; neither had macular degeneration at 19 and 21 years of age. Nerve conduction velocities suggested an axonal neuropathy, and EMG showed chronic neurogenic disturbances, but sural nerve biopsy was normal. Family studies identified a parent, grand-aunt, and grandparent who had mild peripheral neuropathy and hyporeflexia. The parent also had hyperelastic skin, whereas the grand-aunt had ARMD at age 71 years. In a third family (family D), a 46-year-old proband had spinal CMT with onset at age 20 and hyperelastic skin. The father was asymptomatic but had evidence of a mild peripheral neuropathy of the lower limbs; he also had ARMD at age 82 years. Six additional patients with sporadic occurrence of ARMD who were over the age of 79 years were subsequently found to have variable features of peripheral neuropathy, and 2 patients in their eighties had sporadic peripheral neuropathy without ARMD. Auer-Grumbach et al. (2011) concluded that the overall phenotype in these patients represented a novel syndrome associated with FBLN5 gene mutations, including presence of peripheral neuropathy with or without ARMD and occasionally hyperelastic skin, with intrafamilial variability. </p><p>Safka Brozkova et al. (2013) reported a large family of Czech descent with CMT1H. Affected individuals had onset in their twenties of distal muscle atrophy and weakness affecting mainly the lower limbs, with some patients having weakness of the upper limbs. Two older patients reported distal sensory impairment. Some younger patients were clinically asymptomatic, but electrophysiologic studies indicated a demyelinating peripheral neuropathy. Patellar reflexes were decreased or absent in all patients. None had hyperelastic skin or ARMD. </p><p>Cheng et al. (2017) reported a Chinese family with CMT1H. The 46-year-old proband developed distal numbness and muscle weakness at age 34 years when he was also diagnosed with diabetes mellitus. The neurologic disorder was slowly progressive, and he developed gait difficulties and distal sensory impairment of several modalities in both the lower and upper limbs. Other features included hypo- or areflexia, steppage gait, and atrophy of the distal muscles of the upper and lower limbs. The disorder remained essentially static over about 10 years. The patient's 81-year-old mother had a mild peripheral neuropathy with distal sensory impairment, areflexia, and pes cavus; she developed age-related macular degeneration and cataract of the right eye. The proband's 16-year-old daughter had no clinical symptoms, although deep tendon reflexes were absent. Electrophysiologic studies in all 3 patients were indicative of a demyelinating sensorimotor neuropathy with more prominent findings in the proband, who was the most severely affected. Ultrasound detected abnormally enlarged nerves, and sural nerve biopsy of the proband showed a decrease in myelinated fibers as well as the presence of onion bulb formations and poorly myelinated axons. </p><p>Safka Brozkova et al. (2020) reported 38 affected individuals from 19 families with CMT1H confirmed by genetic analysis. The families were of Austrian, Czech, French, and German origin; 3 of the families had previously been reported. Most patients were diagnosed between the third and fifth decades (median 39 years of age), and the presenting features included foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Of note, many patients complained of unpleasant sensory sensations in the upper extremities and hands. In retrospect, many patients had foot deformities since childhood, but had no physical limitations at that time. The disorder was slowly progressive and became more apparent with age, although all remained ambulatory and had purposeful hand use. Several younger individuals carrying the mutation were clinically asymptomatic, although decreased reflexes and foot deformities were noted. None had hyperelastic skin; 1 patient had age-related macular degeneration at age 81. Electrophysiologic studies were consistent with a demyelinating polyneuropathy. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of CMT1H in the families reported by Auer-Grumbach et al. (2011) and Safka Brozkova et al. (2013) was consistent with autosomal dominant inheritance with variable expressivity and age-dependent penetrance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 3 families with CMT1H, Auer-Grumbach et al. (2011) identified 3 different heterozygous missense mutations in the FBLN5 gene (604580.0012-604580.0014). Functional studies of the variants were not performed. </p><p>Safka Brozkova et al. (2013) identified a heterozygous missense mutation in the FBLN5 gene (R373C; 604580.0012) in affected members of a Czech family with CMT1H. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. </p><p>In 3 affected members spanning 3 generations of a Chinese family with CMT1H, Cheng et al. (2017) identified a heterozygous R373C mutation in the FBLN5 gene (604580.0012). </p><p>In affected members of 19 families with CMT1H, some of whom had previously been reported, Safka Brozkova et al. (2020) identified 3 different heterozygous missense mutations in the FBLN5 gene. R373C (604580.0012) was the most common mutation, occurring in 15 families of Austrian, Czech, and French origin. Three families of Czech or German origin carried a heterozygous R331H mutation (604580.0015), and 1 French family carried a D329V mutation (604580.0016). The mutations, which were detected by Sanger sequencing, multigene panel sequencing, or whole-exome sequencing, segregated with the disorder in families from whom DNA was available for the affected members. Functional studies of the variants were not performed, but they were either absent from or found only once in the gnomAD database. </p>
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<strong>REFERENCES</strong>
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Auer-Grumbach, M., Weger, M., Fink-Puches, R., Papic, L., Frohlich, E., Auer-Grumbach, P., El Shabrawi-Caelen, L., Schabhuttl, M., Windpassinger, E., Senderek, J., Budka, H., Trajanoski, S., Janecke, A. R., Haas, A., Metze, D., Pieber, T. R., Guelly, C.
<strong>Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.</strong>
Brain 134: 1839-1852, 2011.
[PubMed: 21576112]
[Full Text: https://doi.org/10.1093/brain/awr076]
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Cheng, S., Lv, H., Zhang, W., Wang, Z., Shi, X., Liang, W., Yuan, Y.
<strong>Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation.</strong>
Clin. Neuropath. 36: 171-177, 2017.
[PubMed: 28332470]
[Full Text: https://doi.org/10.5414/NP301011]
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Safka Brozkova, D., Lassuthova, P., Neupauerova, J., Krutova, M., Haberlova, J., Stejskal, D., Seeman, P.
<strong>Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy. (Letter)</strong>
Brain 136: e232, 2013. Note: Electronic Article.
[PubMed: 23328402]
[Full Text: https://doi.org/10.1093/brain/aws333]
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Safka Brozkova, D., Stojkovic, T., Haberlova, J., Mazanec, R., Windhager, R., Fernandes Rosenegger, P., Hacker, S., Zuchner, S., Kochanski, A., Leonard-Louis, S., Francou, B., Latour, P., Senderek, J., Seeman, P., Auer-Grumbach, M.
<strong>Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.</strong>
Europ. J. Neurol. 27: 2568-2574, 2020.
[PubMed: 32757322]
[Full Text: https://doi.org/10.1111/ene.14463]
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