Pure myopathy associated with a novel mitochondrial tRNA gene mutation
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 tRNAAla 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.
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Information & Authors
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Published In
Neurology®
Volume 66 • Number 3 • February 14, 2006
Pages: 447-449
Copyright
© 2006.
Publication History
Published online: February 13, 2006
Published in print: February 14, 2006
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