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Oculoskeletal Myopathy with Abnormal Mitochondria

Published online by Cambridge University Press:  18 September 2015

V. Bril ,
N. B. Rewcastle  and
J. Humphrey
V. Bril*
Affiliation:
Divisions of Neurology and Neuropathology, Toronto General Hospital, University of Toronto
N. B. Rewcastle
Affiliation:
Divisions of Neurology and Neuropathology, Toronto General Hospital, University of Toronto
J. Humphrey
Affiliation:
Divisions of Neurology and Neuropathology, Toronto General Hospital, University of Toronto
*
Eaton N11–211, Toronto General Hospital, Toronto, Ontario, Canada M5G 1L7
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Abstract:

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A clinical, electrophysiological and pathological review of 14 patients having oculoskeletal myopathy with abnormal mitochondria was undertaken. These patients present with ophthalmoplegia, and mild skeletal muscle weakness. The clinical course is slowly progressive. Electromyographic examination shows myopathic changes. Serum enzymes are normal. The diagnosis is confirmed by skeletal muscle biopsy which shows abnormal mitochondria, including crystalloid inclusions on electron microscopy. These patients form a distinct clinical group in which the risk of sudden cardiac death is much less than it is in the Kearns-Sayre syndrome.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 11 , Issue 3 , August 1984 , pp. 390 - 394
Copyright
Copyright © Canadian Neurological Sciences Federation 1984

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