Identification of Duchenne muscular dystrophy carriers. Electron microscopical investigation of skeletal muscle.

Abstract

In order to identify a subclinical dystrophy, muscle biopsy specimens from 15 mothers of boys with Duchenne muscular dystrophy were studied by electron microscopy. Genetic investigations and biochemical determinations were not conclusive for a diagnosis of the carrier state. The fine structural lesions were sufficient to vertify the diagnosis of a subclinical dystrophy, and our findings were in agreement with other investigators. However, original intranuclear filamentous formations were noted in one case.