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OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules
Pathogenic OPA1 mutations cause autosomal dominant optic atrophy (DOA), a condition characterized by the preferential loss of retinal ganglion cells and progressive optic nerve degeneration. Approximately 20% of affected patients will also develop more severe neuromuscular complications, an importan...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2901142/ https://ncbi.nlm.nih.gov/pubmed/20484224 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq209 |
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