1. Pure myopathy associated with a novel mitochondrial tRNA gene mutation.
- Author
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Swalwell H, Deschauer M, Hartl H, Strauss M, Turnbull DM, Zierz S, and Taylor RW
- Subjects
- Creatine Kinase blood, Exercise, Histocytochemistry, Humans, Male, Middle Aged, Mitochondrial Myopathies complications, Mitochondrial Myopathies pathology, Mitochondrial Myopathies physiopathology, Muscle Weakness etiology, Muscle, Skeletal enzymology, Muscle, Skeletal pathology, Pain etiology, Syndrome, Mitochondrial Myopathies genetics, Mutation, RNA, Transfer, Ala
- Abstract
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 case exemplifies the wide-ranging clinical spectrum of mitochondrial disease presentations.
- Published
- 2006
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