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Brain, Vol. 107, No. 4, 1165-1177, 1984
© 1984 Guarantors of Brain

research-article

A NEW MITOCHONDRIAL MYOPATHY

BIOCHEMICAL STUDIES REVEALING A DEFICIENCY IN THE CYTOCHROME b-c1 COMPLEX (COMPLEX III) OF THE RESPIRATORY CHAIN

D. J. HAYES1,2, B. R. F. LECKY1, D. N. LANDON1, J. A. MORGAN-HUGHES1,3 and J. B. CLARK2

1the Institute of Neurology Queen Square, London WCIN 3BG 2the Biochemistry Department, the Medical College of St Bartholomew's Hospital, Charterhouse Square London ECIM 6BQ 3Request for reprints to Dr. J. A. Morgan-Hughes, Institute of Neurology, Queen Square, London WCIN 3BG.

A 20-year-old Chilen girls presented with life long ptosis fatiguable weakness which was initially thought to be due to a congenital myasthenic syndrome. Studies of an intercostal musles biopsy showed normal endplate morphology, abundant acetylcholinesterase activity and a normal number of junctional acetycholine receptors as determined by radiochemical assay, but a high proporation of the mucle fibres contained peripheral aggregations of abnormal mitochondria. Biochemical investigaion repiratory chain deficiency localized to coplex III.

Received February 24, 1984. Revised June 7, 1984.
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