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Lookup NU author(s): Dr Helen Swalwell,
Emeritus Professor Doug Turnbull,
Professor Robert Taylor
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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. Copyright © 2006 by AAN Enterprises, Inc.
Author(s): Swalwell H, Deschauer M, Hartl H, Strauss M, Turnbull DM, Zierz S, Taylor RW
Publication type: Article
Publication status: Published
ISSN (print): 0028-3878
ISSN (electronic): 1526-632X
Publisher: Lippincott Williams & Wilkins
PubMed id: 16476954
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