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...
Topics
- Adenine
- Adult
- Base Sequence
- Biopsy
- Citrate (si)-Synthase
- Cytochrome-c Oxidase Deficiency
- DNA, Mitochondrial
- Electron Transport Complex IV
- Family
- Female
- Guanine
- Humans