Archives of Disease in Childhood, Vol 64, 1501-1503, Copyright © 1989 by Archives of Disease in Childhood.
Dystrophin analysis in the diagnosis of muscular dystrophy
AM Norman, HE Hughes, D Gardner-Medwin and LV Nicholson
Institute of Medical Genetics, University Hospital of Wales, Cardiff.
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.