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Pure myopathy associated with a novel mitochondrial tRNA gene mutation

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.

Publication metadata

Author(s): Swalwell H, Deschauer M, Hartl H, Strauss M, Turnbull DM, Zierz S, Taylor RW

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2006

Volume: 66

Issue: 3

Pages: 447-449

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins


DOI: 10.1212/01.wnl.0000196490.36349.83

PubMed id: 16476954


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Funder referenceFunder name
074454Wellcome Trust