Deficiency of the 50 kDa dystrophin-associated glycoprotein and abnormal expression of utrophin in two south Asian cousins with variable expression of severe childhood autosomal recessive muscular dystrophy.
Two male cousins with severe childhood, autosomal recessive, Duchenne-like, muscular dystrophy (SCARMD) have been identified with a deficiency of the 50 kDa dystrophin-associated glycoprotein but normal expression of dystrophin. Both boys were from consanguineous marriages and were Asian, having originated from Pakistan. This is in contrast to all previously reported cases from North Africa. Clinical severity varied and the patients were still able to walk at 13 and 12 yr, respectively. Neither had calf hypertrophy, a feature reported to be almost consistent in the North African patients. Abnormal expression of utrophin, the dystrophin-related protein, was observed on the surface of several non-regenerating muscle fibres, with less intense immunolabelling in the clinically more affected child. This family shows that SCARMD is not confined to North Africa and illustrates a hitherto unreported expression of utrophin in this condition.
Sewry
C A
CA
Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, London, U.K.
Sansome
A
A
Matsumura
K
K
Campbell
K P
KP
Dubowitz
V
V
D000911:Antibodies, Monoclonal; D001208:Asia / Q000208:ethnology; D001706:Biopsy; D002648:Child; D003598:Cytoskeletal Proteins / Q000172:deficiency* / Q000378:metabolism*; D049030:Dystroglycans; D005808:Genes, Recessive; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D007630:Kenya / Q000208:ethnology; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency*; D008565:Membrane Proteins; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D010154:Pakistan / Q000208:ethnology; D010375:Pedigree; D049411:Utrophin
D000911:Antibodies, Monoclonal; D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D049411:Utrophin; D049030:Dystroglycans