title: Nerve-muscle involvement in a large family with mitochondrial cytopathy: electrophysiological studies.
abstract: Thirteen patients with mitochondrial cytopathy were investigated. They represent different generations, ages, stages, and severities of the disease. All were assumed to have the same metabolic defect. The disease is a multisystem disorder with a metabolic defect located at complex 1 in the respiratory chain. Clinically, the disorder gives symptoms such as hearing loss, retinal pigmental degeneration, ataxia, cardiomyopathy, muscular fatiguability and neuropathy. The patients were investigated with nerve conduction studies, concentric needle EMG, SFEMG, and macro EMG examinations. Neurophysiologic studies revealed signs of myopathy in both the younger members and in those with slight muscular symptoms. In the more advanced stages, neuropathic changes of the axonal type were seen as well. Macro EMG was interpreted as indicating muscle fiber membrane abnormalities in the early stages. Single fiber EMG studies indicate that this metabolic defect does not disturb neuromuscular transmission.
authors.affiliation: Department of Neurology, University Hospital, Tromsö, Norway.
authors.forename: T
authors.initials: T
authors.lastname: Torbergsen
authors.forename: E
authors.initials: E
authors.lastname: Stålberg
authors.forename: J K
authors.initials: JK
authors.lastname: Bless
mesh_terms: D000328:Adult; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000378:metabolism*; D009119:Muscle Contraction / Q000502:physiology; D009132:Muscles / Q000503:physiopathology*; D009431:Neural Conduction / Q000502:physiology; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D009435:Synaptic Transmission / Q000502:physiology