A homologue of dystrophin is expressed at the neuromuscular junctions of normal individuals and DMD patients, and of normal and mdx mice Immunological evidence

AbstractPolyclonal and monoclonal antibodies, which recognize different regions and epitopes of the dystrophin molecule, bind to a protein of Mr 400 000 which is present in extracts of mdx muscle from regions which contain neuromuscular junctions (NMJ) and is absent from those which do not. This NMJ-associated homologue of dystrophin has at least 2 epitopes which are different to the usual Xp21 form of dystrophin expressed along the sarcolemma of muscle fibres in normal muscles. This protein is also expressed at the NMJ of a DMD patient who lacks the first 52 exons of the Xp21 dystrophin gene and it must therefore be translated from a different gene transcript

Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa

It has been previously shown in Tunisian and Algerian families that the locus for SCARMD maps to the proximal part of 13q, and in Algerian families that the disease is associated with deficiency of the 50 kDa dystrophin associated glycoprotein (50DAG). We have tested this linkage in six families from Morocco where this disease is also prevalent. In one family the 50DAG was tested and found to be negative in a muscle biopsy. Our results showed similar linkage in this country, with statistical tests indicating genetic homogeneity between the three Maghreb countries