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Neurology 2000;55:1210-1212
© 2000 American Academy of Neurology
Brief Communications

A novel mutation in the mitochondrial tRNATyr gene associated with exercise intolerance

T. Pulkes, MD, A. Siddiqui, MRCP, J. A. Morgan–Hughes, MD and M. G. Hanna, MD

From the Sections of Neurogenetics (Drs. Pulkes, Siddiqui, and Hanna) and Muscle (Drs. Pulkes, Siddiqui, Morgan–Hughes, and Hanna), Institute of Neurology, Queen Square, London, UK.

Address correspondence and reprint requests to Dr. M.G. Hanna, Neurogenetics and Muscle Sections, University Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1N 3BG, UK.

The authors report a novel A5874G mutation in the mitochondrial tRNA tyrosine (tRNATyr) gene associated with exercise intolerance, limb weakness, and complex III deficiency. The mutation was absent in blood from the patient and all maternal family members, indicating that it may be a spontaneous somatic mutation in muscle. This is the first point mutation in the tRNATyr gene associated with human disease and is further evidence that exercise intolerance associated with complex III deficiency is genetically heterogeneous.




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