Article
Pure myopathy associated with a novel mitochondrial tRNA gene mutation.
Neurology - 14 Feb 2006
Swalwell H, Deschauer M, Hartl H, Strauss M, Turnbull D M, Zierz S, Taylor R W
Abstract excerpt
The authors describe a 47-year-old man who presented with proximal muscle weakness, myalgia, elevated creatine kinase, and features of a pure myopathic syndrome in whom they have identified a novel mutation in the mitochondrial tRNA(Ala) gene. This 5591G>A transition is heteroplasmic, segregates with cytochrome c oxidase deficiency in single muscle fibers, and fulfills recognized criteria for pathogenicity. This...
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