A NEW MITOCHONDRIAL MYOPATHY

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Abstract
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.

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