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<title>
Entry
- #621095 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2JJ; CMT2JJ
- OMIM
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<span class="h4">#621095</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/621095"><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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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>DO:</strong> 0051043<br />
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<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
621095
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<div class="mim-changed mim-change">CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2JJ; CMT2JJ</div>
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<em>Alternative titles; symbols</em>
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<div class="mim-changed mim-change">CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2JJ</div>
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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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<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">
Charcot-Marie-Tooth disease, axonal, type 2JJ
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</td>
<td>
<span class="mim-font">
<a href="/entry/621095"> 621095 </a>
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</td>
<td>
<span class="mim-font">
<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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<td>
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BAG3
</span>
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<td>
<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
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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>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
<div class="mim-changed mim-change"> - 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 /></div>
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<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
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<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
<div class="mim-changed mim-change"> - Cardiac palpitations (1 patient)<br /></div>
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
<div class="mim-changed mim-change"> - Shortness of breath (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267036007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267036007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230145002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230145002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.05" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.05</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2707305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2707305</a>, <a href="https://bioportal.bioontology.org/search?q=C0013404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013404</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002094</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002094</a>]</span><br /></div>
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
<div class="mim-changed mim-change"> - Achilles tendon contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203076007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203076007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0410264&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0410264</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001771</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001771</a>]</span><br /></div>
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
<div class="mim-changed mim-change"> - Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /></div>
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
<div class="mim-changed mim-change"> - Proximal muscle weakness (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249939004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249939004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221629</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003701</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003701</a>]</span><br /> -
Fatty infiltration of certain lower limb muscles seen on MRI<br /></div>
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
<div class="mim-changed mim-change"> - Axonal Charcot-Marie-Tooth disease<br /> -
Length-dependent axonal sensorimotor neuropathy<br /> -
Distal sensory impairment, predominantly of the lower limbs<br /> -
Distal sensory impairment of the upper limbs (in some patients)<br /> -
Distal muscle weakness of the lower limbs<br /> -
Distal muscle weakness of the upper limbs (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150620&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150620</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008959" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008959</a>]</span><br /> -
Gait difficulties <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 /> -
Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br /> -
Nerve conduction studies show reduced motor and sensory responses<br /> -
Chronic denervation without myopathic findings seen on EMG<br /> -
Moderate loss of large-diameter myelinated nerve fibers seen on sural nerve biopsy<br /></div>
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
<div class="mim-changed mim-change"> - Adult onset <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 /> -
Three unrelated families have been reported (last curated February 2025)<br /></div>
</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">
<div class="mim-changed mim-change"> - Caused by mutation in the BCL2-associated athanogene 3 (BAG3, <a href="/entry/603883#0011">603883.0011</a>)<br /></div>
</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/1/955?start=-3&limit=10&highlight=955"> 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/1/1241?start=-3&limit=10&highlight=1241"> 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/1/1293?start=-3&limit=10&highlight=1293"> 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/1/1349?start=-3&limit=10&highlight=1349"> 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/1/1349?start=-3&limit=10&highlight=1349"> 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/1/1349?start=-3&limit=10&highlight=1349"> 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/1/1349?start=-3&limit=10&highlight=1349"> 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/1/1349?start=-3&limit=10&highlight=1349"> 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/3/655?start=-3&limit=10&highlight=655"> 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/3/799?start=-3&limit=10&highlight=799"> 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/3/881?start=-3&limit=10&highlight=881"> 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/48?start=-3&limit=10&highlight=48"> 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/127?start=-3&limit=10&highlight=127"> 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/407?start=-3&limit=10&highlight=407"> 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/553?start=-3&limit=10&highlight=553"> 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/663?start=-3&limit=10&highlight=663"> 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/676?start=-3&limit=10&highlight=676"> 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">
<div class="mim-changed mim-change"><p>A number sign (#) is used with this entry because of evidence that axonal Charcot-Marie-Tooth disease type 2JJ (CMT2JJ) is caused by heterozygous mutation in the BAG3 gene (<a href="/entry/603883">603883</a>) on chromosome 10q26.</p><p>Heterozygous mutation in the BAG3 gene can also cause dilated cardiomyopathy-1HH (CMD1HH; <a href="/entry/613881">613881</a>), distal hereditary motor neuropathy-15 (HMND15; <a href="/entry/621094">621094</a>), and myofibrillar myopathy-6 (MFM6; <a href="/entry/612954">612954</a>). These allelic disorders have overlapping features.</p></div>
</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>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<div class="mim-changed mim-change"><p>Charcot-Marie-Tooth disease type 2JJ (CMT2JJ) is an autosomal dominant axonal sensorimotor peripheral neuropathy characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs. Some affected individuals have upper limb involvement. Electrophysiologic studies are consistent with a length-dependent axonal neuropathy (<a href="#1" class="mim-tip-reference" title="Fu, J., Ma, M., Song, J., Pang, M., Li, G., Zhang, J. &lt;strong&gt;BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease.&lt;/strong&gt; J. Neurol. 267: 1080-1085, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31853710/&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;31853710&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00415-019-09680-8&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="31853710">Fu et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31853710" 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 phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (<a href="/entry/118210">118210</a>).</p></div>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
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<div class="mim-changed mim-change"><p><a href="#2" class="mim-tip-reference" title="Shy, M., Rebelo, A. P., Feely, S. M. E., Abreu, L. A., Tao, F., Swenson, A., Bacon, C., Zuchner, S. &lt;strong&gt;Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 89: 313-315, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28754666/&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;28754666&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp-2017-315929&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="28754666">Shy et al. (2018)</a> reported 2 large multigenerational families in which multiple individuals had adult-onset axonal sensorimotor peripheral neuropathy consistent with a diagnosis of CMT. Detailed clinical information was available for 4 patients from family WSU-75553 and 1 patient from family WSU-75767. The patients had adult onset (twenties to forties) of distal sensory impairment predominantly affecting the lower limbs; 3 patients had sensory defects in the distal upper limbs. Two patients had muscle weakness in the distal lower limb muscles, and 1 of the 2 also had mild muscle weakness in the distal upper limbs. Otherwise, most patients did not have notable muscle weakness, and none had proximal muscle weakness. Nerve conduction studies showed reduced motor and sensory responses, and EMG showed chronic denervation without myopathic findings. Sural nerve biopsy and muscle biopsy were not performed. Serum creatine kinase was normal or only mildly elevated. The patient from family WSU-75767 had cardiac palpitations and a family history of early cardiac death. Some individuals in family 75553 developed shortness of breath. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28754666" 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="#1" class="mim-tip-reference" title="Fu, J., Ma, M., Song, J., Pang, M., Li, G., Zhang, J. &lt;strong&gt;BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease.&lt;/strong&gt; J. Neurol. 267: 1080-1085, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31853710/&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;31853710&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00415-019-09680-8&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="31853710">Fu et al. (2020)</a> reported a Chinese woman (the proband) and her mother who presented at 26 and 50 years of age, respectively, with distal lower limb muscle weakness and atrophy resulting in walking difficulties as well as distal sensory impairment of the lower limbs. Muscle weakness progressed slowly to the proximal lower limbs, causing difficulty climbing stairs. Additional features included pes cavus, Achilles tendon contractures, and areflexia of all 4 limbs. MRI showed fatty infiltration of certain lower limb muscles (soleus, deep posterior compartment muscles). Serum creatine was normal. Electrophysiologic studies were consistent with an axonal sensorimotor neuropathy, and EMG demonstrated neurogenic features. Sural nerve biopsy of the proband showed a chronic axonal neuropathy with moderate loss of large-diameter myelinated fibers. There were no giant axons, axonal degeneration, or regeneration, and no onion bulb formations. Echocardiography and electrocardiogram were normal, and muscle biopsy was not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31853710" 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></div>
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<strong>Inheritance</strong>
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<div class="mim-changed mim-change"><p>The transmission pattern of CMT2JJ in the families reported by <a href="#2" class="mim-tip-reference" title="Shy, M., Rebelo, A. P., Feely, S. M. E., Abreu, L. A., Tao, F., Swenson, A., Bacon, C., Zuchner, S. &lt;strong&gt;Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 89: 313-315, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28754666/&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;28754666&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp-2017-315929&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="28754666">Shy et al. (2018)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28754666" 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></div>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<div class="mim-changed mim-change"><p>In 9 affected individuals from 2 large multigenerational families with CMT2JJ, <a href="#2" class="mim-tip-reference" title="Shy, M., Rebelo, A. P., Feely, S. M. E., Abreu, L. A., Tao, F., Swenson, A., Bacon, C., Zuchner, S. &lt;strong&gt;Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 89: 313-315, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28754666/&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;28754666&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp-2017-315929&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="28754666">Shy et al. (2018)</a> identified a heterozygous P209S mutation in the BAG3 gene (<a href="/entry/603883#0011">603883.0011</a>). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. The P209S variant occurs at a conserved residue in 1 of the 2 Ile-Pro-Val (IPV) motifs that mediates binding to HSPB8 (<a href="/entry/608014">608014</a>). Functional studies of the variant were not performed, but <a href="#2" class="mim-tip-reference" title="Shy, M., Rebelo, A. P., Feely, S. M. E., Abreu, L. A., Tao, F., Swenson, A., Bacon, C., Zuchner, S. &lt;strong&gt;Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 89: 313-315, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28754666/&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;28754666&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp-2017-315929&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="28754666">Shy et al. (2018)</a> suggested that disruption of the IPV motif could interrupt BAG3-HSPB8 binding and fail to promote clearance of aggregate proteins in peripheral nerves, possibly resulting in damage to the nerves. The patients had no clinical evidence of a myopathy; neither muscle biopsy nor sural nerve biopsy were performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28754666" 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 a mother and daughter from a nonconsanguineous Chinese family with CMT2JJ, <a href="#1" class="mim-tip-reference" title="Fu, J., Ma, M., Song, J., Pang, M., Li, G., Zhang, J. &lt;strong&gt;BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease.&lt;/strong&gt; J. Neurol. 267: 1080-1085, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31853710/&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;31853710&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00415-019-09680-8&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="31853710">Fu et al. (2020)</a> identified a heterozygous P209S mutation in the BAG3 gene. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was not found in the ExAC or gnomAD databases. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31853710" 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></div>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="1" class="mim-anchor"></a>
<a id="Fu2020" class="mim-anchor"></a>
<div class="mim-changed mim-change">
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Fu, J., Ma, M., Song, J., Pang, M., Li, G., Zhang, J.
<strong>BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease.</strong>
J. Neurol. 267: 1080-1085, 2020.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31853710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31853710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31853710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s00415-019-09680-8" target="_blank">Full Text</a>]
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<a id="Shy2018" class="mim-anchor"></a>
<div class="mim-changed mim-change">
<p class="mim-text-font">
Shy, M., Rebelo, A. P., Feely, S. M. E., Abreu, L. A., Tao, F., Swenson, A., Bacon, C., Zuchner, S.
<strong>Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.</strong>
J. Neurol. Neurosurg. Psychiat. 89: 313-315, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28754666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28754666</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28754666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jnnp-2017-315929" target="_blank">Full Text</a>]
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Creation Date:
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Cassandra L. Kniffin : 02/04/2025
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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alopez : 02/10/2025
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ckniffin : 02/10/2025
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<h3>
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<strong>#</strong> 621095
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CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2JJ; CMT2JJ
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<em>Alternative titles; symbols</em>
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CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2JJ
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<strong>DO:</strong> 0051043; &nbsp;
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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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10q26.11
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Charcot-Marie-Tooth disease, axonal, type 2JJ
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621095
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Autosomal dominant
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3
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BAG3
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603883
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that axonal Charcot-Marie-Tooth disease type 2JJ (CMT2JJ) is caused by heterozygous mutation in the BAG3 gene (603883) on chromosome 10q26.</p><p>Heterozygous mutation in the BAG3 gene can also cause dilated cardiomyopathy-1HH (CMD1HH; 613881), distal hereditary motor neuropathy-15 (HMND15; 621094), and myofibrillar myopathy-6 (MFM6; 612954). These allelic disorders have overlapping features.</p>
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<strong>Description</strong>
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<p>Charcot-Marie-Tooth disease type 2JJ (CMT2JJ) is an autosomal dominant axonal sensorimotor peripheral neuropathy characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs. Some affected individuals have upper limb involvement. Electrophysiologic studies are consistent with a length-dependent axonal neuropathy (Fu et al., 2020). </p><p>For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210).</p>
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<strong>Clinical Features</strong>
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<p>Shy et al. (2018) reported 2 large multigenerational families in which multiple individuals had adult-onset axonal sensorimotor peripheral neuropathy consistent with a diagnosis of CMT. Detailed clinical information was available for 4 patients from family WSU-75553 and 1 patient from family WSU-75767. The patients had adult onset (twenties to forties) of distal sensory impairment predominantly affecting the lower limbs; 3 patients had sensory defects in the distal upper limbs. Two patients had muscle weakness in the distal lower limb muscles, and 1 of the 2 also had mild muscle weakness in the distal upper limbs. Otherwise, most patients did not have notable muscle weakness, and none had proximal muscle weakness. Nerve conduction studies showed reduced motor and sensory responses, and EMG showed chronic denervation without myopathic findings. Sural nerve biopsy and muscle biopsy were not performed. Serum creatine kinase was normal or only mildly elevated. The patient from family WSU-75767 had cardiac palpitations and a family history of early cardiac death. Some individuals in family 75553 developed shortness of breath. </p><p>Fu et al. (2020) reported a Chinese woman (the proband) and her mother who presented at 26 and 50 years of age, respectively, with distal lower limb muscle weakness and atrophy resulting in walking difficulties as well as distal sensory impairment of the lower limbs. Muscle weakness progressed slowly to the proximal lower limbs, causing difficulty climbing stairs. Additional features included pes cavus, Achilles tendon contractures, and areflexia of all 4 limbs. MRI showed fatty infiltration of certain lower limb muscles (soleus, deep posterior compartment muscles). Serum creatine was normal. Electrophysiologic studies were consistent with an axonal sensorimotor neuropathy, and EMG demonstrated neurogenic features. Sural nerve biopsy of the proband showed a chronic axonal neuropathy with moderate loss of large-diameter myelinated fibers. There were no giant axons, axonal degeneration, or regeneration, and no onion bulb formations. Echocardiography and electrocardiogram were normal, and muscle biopsy was not performed. </p>
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<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of CMT2JJ in the families reported by Shy et al. (2018) was consistent with autosomal dominant inheritance. </p>
</span>
<div>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
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<span class="mim-text-font">
<p>In 9 affected individuals from 2 large multigenerational families with CMT2JJ, Shy et al. (2018) identified a heterozygous P209S mutation in the BAG3 gene (603883.0011). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. The P209S variant occurs at a conserved residue in 1 of the 2 Ile-Pro-Val (IPV) motifs that mediates binding to HSPB8 (608014). Functional studies of the variant were not performed, but Shy et al. (2018) suggested that disruption of the IPV motif could interrupt BAG3-HSPB8 binding and fail to promote clearance of aggregate proteins in peripheral nerves, possibly resulting in damage to the nerves. The patients had no clinical evidence of a myopathy; neither muscle biopsy nor sural nerve biopsy were performed. </p><p>In a mother and daughter from a nonconsanguineous Chinese family with CMT2JJ, Fu et al. (2020) identified a heterozygous P209S mutation in the BAG3 gene. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was not found in the ExAC or gnomAD databases. Functional studies of the variant and studies of patient cells were not performed. </p>
</span>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Fu, J., Ma, M., Song, J., Pang, M., Li, G., Zhang, J.
<strong>BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease.</strong>
J. Neurol. 267: 1080-1085, 2020.
[PubMed: 31853710]
[Full Text: https://doi.org/10.1007/s00415-019-09680-8]
</p>
</li>
<li>
<p class="mim-text-font">
Shy, M., Rebelo, A. P., Feely, S. M. E., Abreu, L. A., Tao, F., Swenson, A., Bacon, C., Zuchner, S.
<strong>Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.</strong>
J. Neurol. Neurosurg. Psychiat. 89: 313-315, 2018.
[PubMed: 28754666]
[Full Text: https://doi.org/10.1136/jnnp-2017-315929]
</p>
</li>
</ol>
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alopez : 02/10/2025<br>ckniffin : 02/10/2025
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