Article
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.
Molecular vision - 1 Jan 2013
Khan Nahid Akhtar, Govindaraj Periyasamy, Jyothi Vuskamalla, Meena Angamuthu K, Thangaraj Kumarasamy
Abstract excerpt
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 sequencing analysis was performed for two Indian families with LHON. The haplogroup was constructed based on...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.