Cargando…
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...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2010
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901142/ https://www.ncbi.nlm.nih.gov/pubmed/20484224 http://dx.doi.org/10.1093/hmg/ddq209 |