Clinical features of mitochondrial myopathy.
Five patients with mitochondrial myopathy are discussed. Two presented with progressive external ophthalmoplegia (CPEO), one with CPEO and retinitis pigmentosa, and two with Kearns-Sayre syndrome. Ragged red fibres and intra-mitochondrial paracrystalline inclusions were found in each case. The clinical heterogeneity of the mitochondrial myopathy syndrome in the presence of identical pathological changes in skeletal muscle is emphasised.
D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006327:Heart Block / Q000209:etiology; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D009886:Ophthalmoplegia / Q000209:etiology