A study of a family with inherited disease of cardiac and skeletal muscle. Part I. Clinical, electrocardiographic, echocardiographic, haemodynamic, electrophysiological and electron microscopic studies
Date
1981-03
Authors
Przybojewski, J. Z.
Hoffman, H.
De Graaf, A. S.
Van der Walt, J. J.
Tiedt, F. A. C.
O'Kennedy, A.
Torrington, M.
Lochner, A.
Hewlett, R.
Journal Title
Journal ISSN
Volume Title
Publisher
HMPG
Abstract
A family consisting of parents and their 6 sons were investigated to elucidate the relationship between a hypertrophic cardiomyopathy, musculoskeletal abnormalities and mental subnormality. The proband was diagnosed as having definite hypertrophic obstructive cardiomyopathy and the remaining family members were shown to have a spectrum of hypertrophic non-obstructive cardiomyopathy. Mild muscle weakness was present in 3 sons. All the subjects except for 1 son showed definite signs of electromyographic abnormality, whereas sensory and motor conduction velocities were normal. All the EEGs except for that of the proband were normal. Testicular hypoplasia was present in 3 sons. The inheritance pattern appears to be polygenic autosomal recessive in type. Definite evidence of linkage between hypertrophic cardiomyopathy and HLA awaits further data.
Description
The original publication is available at http://www.samj.org.za
Keywords
Skeletal muscle morphology
Citation
Przybojewski, J. Z. e al. 1981. A study of a family with inherited disease of cardiac and skeletal muscle. Part I. Clinical, electrocardiographic, echocardiographic, haemodynamic, electrophysiological and electron microscopic studies. SA medical journal, 14 March: 363-373