Article
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.
American journal of human genetics - 1 Apr 1996
De Vries D D, Went L N, Bruyn G W, Scholte H R, Hofstra R M, Bolhuis P A, van Oost B A
Abstract excerpt
A rare form of Leber hereditary optic neuropathy (LHON) that is associated with hereditary spastic dystonia has been studied in a large Dutch family. Neuropathy and ophthalmological lesions were present together in some family members, whereas only one type of abnormality was found in others. mtDNA mutations previously reported in LHON were not present. Sequence analysis of the protein-coding mitochondrial genes...
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