Scapuloperoneal syndrome with cardiomyopathy: Report of a family with autosomal dominant inheritance and unusual features

53Citations
Citations of this article
14Readers
Mendeley users who have this article in their library.

Abstract

Four members of a family with scapuloperoneal syndrome were examined and investigated. The pattern of inheritance was autosomal dominant and the myopathic basis of the muscle atrophy was established by histological studies of muscle and spinal cord. The family illustrates an unusual combination of features which appear to be distinct from those of other families with myopathic scapuloperoneal syndrome and autosomal dominant inheritance. These include early age of onset and rapid progression in most cases; occurrence of early muscle contractures; and a high incidence of severe cardiomyopathy in three of the four cases. Some of these features resemble those seen in the x-linked form of the disease and the present family appeared to be a new variant of the autosomal dominant form of the scapuloperoneal syndrome.

Cite

CITATION STYLE

APA

Chakrabarti, A., & Pearce, J. M. S. (1981). Scapuloperoneal syndrome with cardiomyopathy: Report of a family with autosomal dominant inheritance and unusual features. Journal of Neurology Neurosurgery and Psychiatry, 44(12), 1146–1152. https://doi.org/10.1136/jnnp.44.12.1146

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free