Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy

M Zatz; K Matsumura; M Vainzof; M.R Passos-Bueno; R.C.M Pavanello; S.K Marie; K.P Campbell

doi:10.1016/0022-510X(94)90213-5

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Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy

Journal article

Peer reviewed

Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy

M Zatz, K Matsumura, M Vainzof, M.R Passos-Bueno, R.C.M Pavanello, S.K Marie and K.P Campbell

Journal of the neurological sciences, Vol.123(1), pp.122-128

1994

DOI: 10.1016/0022-510X(94)90213-5

PMID: 8064304

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Abstract

Recently, we have demonstrated the specific deficiency of the 50-kDa dystrophin-associated glycoprotein (50DAG) in severe childhood autosomal recessive muscular dystrophy with Duchenne-like phenotype (SCARMD or AR-DLMD), a disease first reported in Tunisia and now presumed to be prevalent in North Africa and the Middle East. Here we demonstrate the deficiency of the 50DAG in one caucasoid and 5 negroid Brazilian patients with severe muscular dystrophy, which confirms that AR-DLMD with the 50DAG deficiency is not confined to the Arab populations. Without the analysis of both dystrophin and 50DAG, isolated male patients with this condition could be undiagnosed or misdiagnosed as having Duchenne or severe Becker muscular dystrophy. We also report, for the first time, the normal expression of the 50DAG and other dystrophin-associated proteins in one negroid and 2 caucasoid Brazilian patients with a phenotype indistinguishable from that of AR-DLMD with 50DAG deficiency. This is consistent with the genetic heterogeneity for the phenotype of AR-DLMD.

Dystrophin-glycoprotein complex

Severe childhood autosomal recessive muscular dystrophy

50-kDa dystrophin-associated glycoprotein

Details

Title: Subtitle: Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy
Creators: M Zatz - Centro de Miopatias, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Cep 05508, Brazil
K Matsumura - Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, 400 EMRB, Iowa City, IA 52242, USA
M Vainzof - Centro de Miopatias, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Cep 05508, Brazil
M.R Passos-Bueno - Centro de Miopatias, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Cep 05508, Brazil
R.C.M Pavanello - Centro de Miopatias, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Cep 05508, Brazil
S.K Marie - Centro de Miopatias, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Cep 05508, Brazil
K.P Campbell - Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, 400 EMRB, Iowa City, IA 52242, USA
Resource Type: Journal article
Publication Details: Journal of the neurological sciences, Vol.123(1), pp.122-128
Publisher: Elsevier B.V
DOI: 10.1016/0022-510X(94)90213-5
PMID: 8064304
ISSN: 0022-510X
eISSN: 1878-5883
Language: English
Date published: 1994
Academic Unit: Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
Record Identifier: 9984068382502771

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