Female carriers of Duchenne muscular dystrophy: a dilemma

Abstract

In this paper female non-identical twins of a known Duchenne carrier are presented; one has typical features and the anticipated progression of Duchenne dystrophy, the other appears to be normal. In addition, two female children with Duchenne-like dystrophy are discussed. These cases show no evidence of translocation or mosaicism and offer an opportunity to reappraise the genetics of Duchenne dystrophy with specific regard to females. The subjects have been fully investigated, and in Case 3 the glycolytic enzymes and mitochondrial energy-producing capacity were also studied.