Co-occurrence of m.1555A>G and m.11778G>A mitochondrial DNA mutations in two Indian families with strikingly different clinical penetrance of Leber hereditary optic neuropathy

BACKGROUND: Mitochondrial DNA (mtDNA) mutations are known to cause Leber hereditary optic neuropathy (LHON). However, the co-occurrence of double pathogenic mutations with different pathological significance in pedigrees is a rare event. METHODS: Detailed clinical investigation and complete mtDNA se...

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Detalles Bibliográficos
Autores principales: Khan, Nahid Akhtar, Govindaraj, Periyasamy, Jyothi, Vuskamalla, Meena, Angamuthu K, Thangaraj, Kumarasamy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3692426/
https://www.ncbi.nlm.nih.gov/pubmed/23805034

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