Mitochondrial DNA mutations and neuromuscular disease.
Mitochondrial DNA mutations have been identified in patients with certain neuromuscular diseases. Point mutations have been associated with maternally inherited diseases, while deletions have been identified in some 'spontaneous' cases.
Wallace
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D000595:Amino Acid Sequence; D000818:Animals; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics; D009468:Neuromuscular Diseases / Q000235:genetics*
D004272:DNA, Mitochondrial; D009245:NADH Dehydrogenase