Dystrophin negative skeletal and myocardial muscle cells in a carrier of Duchenne's muscular dystrophy

Abstract

A 47-year-old woman whose elder son had typical Duchenne's muscular dystrophy (DMD) was diagnosed as the manifesting carrier of the disease. She had developed congestive heart failure but had no evidence of skeletal muscular atrophy. Histological observation of the cardiac muscle revealed a mosaic pattern of dystrophin negative fibres detected by immunofluorescence analysis.