Article
Two families with Leber's hereditary optic neuropathy carrying G11778A and T14502C mutations with haplogroup H2a2a1 in mitochondrial DNA.
Molecular medicine reports - 1 Aug 2015
Qiao Chen, Wei Tanwei, Hu Bo, Peng Chunyan, Qiu Xueping, Wei Li, Yan Ming
Abstract excerpt
The mitochondrial haplogroup has been reported to affect the clinical expression of Leber's hereditary optic neuropathy (LHON). The present study aimed to investigate the interaction between mutations and the haplogroup of mitochondrial DNA (mtDNA) in families. Two unrelated families with LHON were enrolled in the study, and clinical, genetic and molecular characterizations were determined in the affected and...
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