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Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans
Myopathies are heterogeneous disorders characterized clinically by weakness and hypotonia, usually in the absence of gross dystrophic changes. Mitochondrial dysfunction is a frequent cause of myopathy. We report a simplex case born to consanguineous parents who presented with muscle weakness, lactic...
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| Veröffentlicht in: | Hum Genet |
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| Hauptverfasser: | , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4900140/ https://ncbi.nlm.nih.gov/pubmed/26541337 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1608-8 |
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