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Electrophysiological findings including single fibre EMG in a family with mitochondrial myopathy

Fawcett, P.R.W., Mastaglia, F.L. and Mechler, F. (1982) Electrophysiological findings including single fibre EMG in a family with mitochondrial myopathy. Journal of the Neurological Sciences, 53 (2). pp. 397-410.

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Nerve conduction studies, conventional and quantitative concentric needle EMG and single fibre EMG were performed on 5 clinically affected and 7 clinically asymptomatic membres of a family with a mitochondrial myopathy manifesting as a facioscapulohumeral syndrome. Abnormalities of nerve conduction present in 3 clinically affected cases were attributed to co-existent diabetes mellitus. Quantitative CNEMG showed a reduction of the mean motor unit potential duration and increased incidence of polyphasic potentials in all 5 clinically manifest cases consistent with a primary myopathic disorder. Similar but less marked changes were found in 6 of the clinically asymptomatic individuals revealing the presence of a subclinical myopathy. Abnormalities on SFEMG consisting of increases in fibre density and/or jitter were present in all the clinically affected and in 5 clinically normal cases. These changes indicate local reorganization of the spatial arrangement of muscle fibres of the motor unit and a disturbance of neuromuscular transmission. The CNEMG and SFEMG findings are discussed in relation to the histopathological changes in 4 cases.

Item Type: Journal Article
Publisher: Elsevier BV
Copyright: © 1982 Elsevier B.V.
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