Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease associated with mitochondrial DNA (mtDNA) mutations. We describe the distribution of seven different mtDNA mutations and the clinical findings in 334 LHON patients belonging to 29 families. Mutations described only in LHON...
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| Publicado no: | J Med Genet |
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| Principais autores: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1994
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1049799/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8071952/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.31.4.280 |
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