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

C.A Sewry; A Sansome; K Matsumura; K.P Campbell; V Dubowitz

doi:10.1016/0960-8966(94)90003-5

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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

Journal article

Peer reviewed

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

C.A Sewry, A Sansome, K Matsumura, K.P Campbell and V Dubowitz

Neuromuscular disorders : NMD, Vol.4(2), pp.121-129

1994

DOI: 10.1016/0960-8966(94)90003-5

PMID: 8012192

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Abstract

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.

autosomal recessive dystrophy

dystrophin-associated proteins

immunocytochemistry

dystrophin

utrophin

Muscular dystrophy

dystrophin-related protein

Details

Title: Subtitle: 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
Creators: C.A Sewry - Neuromuscular Unit, Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Du Cane Road, London W12 0NN, U.K
A Sansome - Neuromuscular Unit, Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Du Cane Road, London W12 0NN, U.K
K Matsumura - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, IA 52242, U.S.A
K.P Campbell - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, IA 52242, U.S.A
V Dubowitz - Neuromuscular Unit, Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Du Cane Road, London W12 0NN, U.K
Resource Type: Journal article
Publication Details: Neuromuscular disorders : NMD, Vol.4(2), pp.121-129
Publisher: Elsevier B.V
DOI: 10.1016/0960-8966(94)90003-5
PMID: 8012192
ISSN: 0960-8966
eISSN: 1873-2364
Language: English
Date published: 1994
Academic Unit: Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
Record Identifier: 9984068387602771

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