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Dystrophin analysis in the diagnosis of muscular dystrophy
A M Norman1, H E Hughes, D Gardner-Medwin
1Institute of Medical Genetics, University Hospital of Wales, Cardiff.
Archives of Disease in Childhood
|October 1, 1989
Abstract:
We present a family in which the differential diagnosis between X linked Duchenne muscular dystrophy and autosomal recessive Duchenne-like muscular dystrophy was resolved in favour of the latter by analysis of dystrophin, which is the protein product of the Duchenne muscular dystrophy locus.