Article
Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA.
Annals of neurology - 1 Jun 1993
Graf W D, Sumi S M, Copass M K, Ojemann L M, Longstreth W T, Shanske S, Lombes A, DiMauro S
Abstract excerpt
Two families with a point mutation in mtDNA associated with myoclonic epilepsy and ragged-red fiber disease showed pronounced clinical heterogeneity. The mothers of the two families had adult-onset myopathy with ragged-red fibers, partial deficiency of cytochrome c oxidase, and sensory neuropathy. Members of the first family had variable clinical features of progressive ataxic-myoclonic encephalomyopathy and of...
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