A study of a family with inherited disease of cardiac and skeletal muscle. Part II. Skeletal muscle morphology and mitochondrial oxidative phosphorylation

Lochner, A. ; Hewlett, R. H. ; O'Kennedy, A. ; Van der Walt, J. J. ; Tiedt, F. A. C. ; Hoffman, H. ; De Graaf, A. S. ; Przybojewski, J. Z. ; Torrington, M. (1981-03)

The original publication is available at http://www.samj.org.za

Article

Skeletal muscle morphology and mitochondrial oxidative phosphorylation capacity were examined in a family whose members showed varying combinations of mental subnormality, cardiomyopathy and muscle weakness. Light and electron microscopic findings suggested a neuropathic process, while tests of mitochondrial function indicated a state of tight coupling of oxidative phosphorylation, a feature in marked contrast to those in biochemical studies so far reported.

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