title: Mitochondrial myopathy and myoclonic epilepsy.
abstract: The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region. All the patients studied had hypertension. EEG disclosed photomyoclonic response in the proband patient. Muscle biopsy disclosed ragged-red fibers and abnormal mitochondria by electron microscopy. Biochemical analysis showed a defect of cytochrome C oxidase in mitochondria isolated from skeletal muscle. Several clinical and genetic aspects of the mitochondrial encephalomyopathies are discussed.
authors.affiliation: Hospital Nossa Senhora das Graças and Hospital de Clínicas, Universidade Federal do Paraná.
authors.forename: W O
authors.initials: WO
authors.lastname: Arruda
authors.forename: L F
authors.initials: LF
authors.lastname: Torres
authors.forename: A
authors.initials: A
authors.lastname: Lombes
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: B A
authors.initials: BA
authors.lastname: Cardoso
authors.forename: H A
authors.initials: HA
authors.lastname: Teive
authors.forename: D
authors.initials: D
authors.lastname: De Paola
authors.forename: R R
authors.initials: RR
authors.lastname: Seixas
mesh_terms: D000140:Acidosis, Lactic / Q000150:complications; D000328:Adult; D004576:Electromyography; D003576:Electron Transport Complex IV / Q000378:metabolism; D004831:Epilepsies, Myoclonic / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000378:metabolism / Q000648:ultrastructure*; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree
chemical_list: D003576:Electron Transport Complex IV