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Q J Med 1993; 86: 709-713
© 1993 Association of Physicians

research-article

Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene

M. G. SWEENEY1, S. BUNDEY2, M. BROCKINGTON1, K. R. POULTON3, J. B. WINER4 and A.E. HARDING1,

1From the University Department of Clinical Neurology, Institute of Neurology London 2the Departments of Clinical Genetics, Midland Centre for Neurosurgery and Neurology Smethwick, UK 3Neurology, University of Birmingham, Midland Centre for Neurosurgery and Neurology Smethwick, UK 4Division of Neurochemistry and Muscle Chemistry, Midland Centre for Neurosurgery and Neurology Smethwick, UK

Address correspondence to Professor A. E. Harding, University Department of Clinical Neurology (Neurogenetics Section), Institute of Neurology, Queen Square, London WC1N 3BG

Received 2 August 1993 Accepted for publication 20 August 1993.

A family exhibited maternal inheritance of a variable syndrome comprising ocular, neck and proximal upper limb weakness, psychiatric features, and sudden death. Of 15 definitely or probably affected individuals, 7 had died in early adult life, probably of respiratory failure. A novel point mutation of mitochondrial DNA, in a transfer RNA gene at position 3251, was detected in all living affected family members.


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