A study of a family with inherited disease of cardiac and skeletal muscle. Part II. Skeletal muscle morphology and mitochondrial oxidative phosphorylation
Date
1981-03
Authors
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.
Journal Title
Journal ISSN
Volume Title
Publisher
Health and Medical Publishing Group -- HMPG
Abstract
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.
Description
The original publication is available at http://www.samj.org.za
Keywords
Skeletal muscle morphology, Phosphorylation
Citation
Lochner A. et al. 1981. A study of a family with inherited disease of cardiac and skeletal muscle. II. Skeletal muscle morphology and mitochondrial oxidative phosphorylation. SA medical journal, 21 March: 453-461.