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...
Topics
- Base Sequence
- DNA Mutational Analysis
- DNA, Mitochondrial
- Family
- Female
- Haplotypes
- Humans
- India
- Male
- Molecular Sequence Data
- Mutation
- Optic Atrophy, Hereditary, Leber
- Pedigree
- Penetrance