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Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9
IMPORTANCE: Mendelian forms of complex I deficiency are usually associated with fatal infantile encephalomyopathy. Application of “MitoExome” sequencing (deep sequencing of the entire mitochondrial genome and the coding exons of >1000 nuclear genes encoding the mitochondrial proteome) allowed us...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3891824/ https://ncbi.nlm.nih.gov/pubmed/23836383 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2013.3197 |
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