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NEUROLOGY 2006;66:447-449
© 2006 American Academy of Neurology
Brief Communications

Pure myopathy associated with a novel mitochondrial tRNA gene mutation

H. Swalwell, BSc, M. Deschauer, MD, H. Hartl, MD, M. Strauss, MD, D. M. Turnbull, FRCP, S. Zierz, MD and R. W. Taylor, PhD

From the Mitochondrial Research Group (H.S., D.M.T., R.W.T.), School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK; and Department of Neurology (M.D., H.H., M.S., S.Z.), Martin-Luther-Universität Halle-Wittenberg, Halle/Saale, Germany.

Address correspondence and reprint requests to Dr. Robert W. Taylor, Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, NE2 4HH, UK; e-mail: r.w.taylor{at}ncl.ac.uk

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.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the February 14 issue to find the title link for this article.

Supported by the Wellcome Trust, the Muscular Dystrophy Campaign, and the Newcastle upon Tyne Hospitals NHS Trust (D.M.T., R.W.T.).

Disclosure: The authors report no conflicts of interest.

Received July 14, 2005. Accepted in final form October 25, 2005.






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