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British Medical Bulletin 45:630-643 (1989)
© 1989 The British Council

research-article

Duchenne/Becker muscular dystrophy: A SHORT OVERVIEW OF THE GENE, THE PROTEIN, AND CURRENT DIAGNOSTICS

L M Kunkel and E P Hoffman

Pediatrics, Harvard Medical School, Howard Hughes Medical Institute. Children's Hospital Boston, USA

Abstract

The goal of this review is to provide a concise overview of the current state of knowledge of both the gene which, when defective, results in Duchenne muscular dystrophy (DMD), and the normal and abnormal protein products of this gene. The diagnostic tools, both prenatal and postnatal, which have resulted from this research will also be presented. More comprehensive discussions of many aspects of this review can be found elsewhere.1,2


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