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<title>
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Entry
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- 251945 - MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT
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- OMIM
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<span class="h4">251945</span>
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<br />
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<a href="/clinicalSynopsis/251945"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div><a href="https://clinicaltrials.gov/search?cond=MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1224/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=251945[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Other, mainly phenotypes with suspected mendelian basis">
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251945
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT
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</h3>
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<br />
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<a href="/clinicalSynopsis/251945" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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<span class="h5 mim-font">
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<strong> Muscle </strong>
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<div style="margin-left: 2em;">
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- Muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151786&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151786</a>, <a href="https://bioportal.bioontology.org/search?q=C0030552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span><br /> - Exercise intolerance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267044007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267044007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424551</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003546</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003546</a>]</span><br />
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<span class="h5 mim-font">
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<strong> Misc </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Fetal movements reduced<br />
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<strong> Lab </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Deficiency of respiratory-chain Complexes I to IV<br /> - Mitochondrial deficiencies of both the iron-sulfur protein of Complex III ('Rieske' protein) and the 27.2-kD subunit of succinate dehydrogenase<br /> - Defective transport of the Rieske protein into mitochondria<br />
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<span class="h5 mim-font">
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<strong> Inheritance </strong>
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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<p><a href="#1" class="mim-tip-reference" title="Schapira, A. H. V., Cooper, J. M., Morgan-Hughes, J. A., Landon, D. N., Clark, J. B. <strong>Mitochondrial myopathy with a defect of mitochondrial-protein transport.</strong> New Eng. J. Med. 323: 37-42, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2113185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2113185</a>] [<a href="https://doi.org/10.1056/NEJM199007053230107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2113185">Schapira et al. (1990)</a> described the 14-year-old daughter of an English father and Chinese mother who had had muscle weakness and exercise intolerance since early infancy. Fetal movements had been reduced during pregnancy. There were no clinical manifestations related to systems other than skeletal muscle. Deficiency of respiratory-chain Complexes I to IV was found. Mitochondrial preparations showed specific deficiencies of both the iron-sulfur protein of Complex III ('Rieske' protein) and the 27.2-kD subunit of succinate dehydrogenase. Similar experiments with muscle homogenates indicated a deficiency of the subunit of succinate dehydrogenase, but normal levels of the precursor Rieske protein. The findings were interpreted as indicating a defect in the transport of the Rieske protein into mitochondria. <a href="#1" class="mim-tip-reference" title="Schapira, A. H. V., Cooper, J. M., Morgan-Hughes, J. A., Landon, D. N., Clark, J. B. <strong>Mitochondrial myopathy with a defect of mitochondrial-protein transport.</strong> New Eng. J. Med. 323: 37-42, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2113185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2113185</a>] [<a href="https://doi.org/10.1056/NEJM199007053230107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2113185">Schapira et al. (1990)</a> speculated that some iron-sulfur proteins of the mitochondrial respiratory chain may be encoded by a cluster of nuclear genes and that a mutation affecting a single coding sequence could account for the double deficiency. This could lead to a reduced synthesis of the 27.2-kD polypeptide and produce changes in the coding of the Rieske precursor sequence such that its receptor-mediated transport into mitochondria is defective. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2113185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Schapira, A. H. V., Cooper, J. M., Morgan-Hughes, J. A., Landon, D. N., Clark, J. B.
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<strong>Mitochondrial myopathy with a defect of mitochondrial-protein transport.</strong>
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New Eng. J. Med. 323: 37-42, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2113185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2113185</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2113185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT
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<p>Schapira et al. (1990) described the 14-year-old daughter of an English father and Chinese mother who had had muscle weakness and exercise intolerance since early infancy. Fetal movements had been reduced during pregnancy. There were no clinical manifestations related to systems other than skeletal muscle. Deficiency of respiratory-chain Complexes I to IV was found. Mitochondrial preparations showed specific deficiencies of both the iron-sulfur protein of Complex III ('Rieske' protein) and the 27.2-kD subunit of succinate dehydrogenase. Similar experiments with muscle homogenates indicated a deficiency of the subunit of succinate dehydrogenase, but normal levels of the precursor Rieske protein. The findings were interpreted as indicating a defect in the transport of the Rieske protein into mitochondria. Schapira et al. (1990) speculated that some iron-sulfur proteins of the mitochondrial respiratory chain may be encoded by a cluster of nuclear genes and that a mutation affecting a single coding sequence could account for the double deficiency. This could lead to a reduced synthesis of the 27.2-kD polypeptide and produce changes in the coding of the Rieske precursor sequence such that its receptor-mediated transport into mitochondria is defective. </p>
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Schapira, A. H. V., Cooper, J. M., Morgan-Hughes, J. A., Landon, D. N., Clark, J. B.
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<strong>Mitochondrial myopathy with a defect of mitochondrial-protein transport.</strong>
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New Eng. J. Med. 323: 37-42, 1990.
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[PubMed: 2113185]
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[Full Text: https://doi.org/10.1056/NEJM199007053230107]
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mimadm : 2/19/1994<br>supermim : 3/17/1992<br>carol : 9/18/1990
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