Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.

Abstract

PURPOSE To investigate the molecular pathogenesis of Leber's hereditary optic neuropathy (LHON) in Chinese families. DESIGN Six Han Chinese families who seem to have maternally transmitted LHON were studied by clinical, genetic, and molecular evaluations. PARTICIPANTS One hundred twenty-seven subjects from 6 Chinese families with a wide range of age-at… (More)
DOI: 10.1016/j.ophtha.2010.09.003

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