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Mitochondrial myopathy associated with a novel mutation in mtDNA
A 6-year-old boy had progressive muscle weakness since age 4 and emotional problems diagnosed as Asperger syndrome. His mother and two older siblings are in good health and there is no family history of neuromuscular disorders. Muscle biopsy showed ragged-red and cytochrome c oxidase (COX)-negative...
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| Auteurs principaux: | , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2007
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2699619/ https://ncbi.nlm.nih.gov/pubmed/17588757 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2007.04.005 |
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