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Article

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene.

Annals of neurology - 1 Sept 2000

Birch-Machin M A, Taylor R W, Cochran B, Ackrell B A, Turnbull D M

Abstract excerpt

Genetic defects affecting the mitochondrial respiratory chain are an important cause of neurological disease. Previously, we identified a family with complex II deficiency and late-onset neurodegenerative disease with progressive optic atrophy, ataxia, and myopathy. The affected family members are now shown to carry a C-to-T transition in one allele of the nuclear gene encoding the flavoprotein subunit of complex...

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PMID: 10976639

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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