Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/53465
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Type: Journal article
Title: Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders
Author: Peat, R.
Gecz, J.
Fallon, J.
Tarpey, P.
Smith, R.
Futreal, P.
Stratton, M.
Lamande, S.
Yang, N.
North, K.
Citation: Neuromuscular Disorders, 2008; 18(8):606-609
Publisher: Pergamon-Elsevier Science Ltd
Issue Date: 2008
ISSN: 0960-8966
1873-2364
Statement of
Responsibility: 
Rachel A. Peat, Jozef Gécz, Justin R. Fallon, Patrick S. Tarpey, Raffaella Smith, Andrew Futreal, Michael R. Stratton, Shireen R. Lamandé, Nan Yang and Kathryn N. North
Abstract: Biglycan has been considered a good candidate for neuromuscular disease based on direct interactions with collagen VI and α-dystroglycan, both of which are linked with congenital muscular dystrophy (CMD). We screened 83 patients with CMD and other neuromuscular disorders and six controls for mutations and variations in the biglycan sequence. We identified a number of novel sequence variations. After family analysis and control screening we found that none of these polymorphisms were disease-causing mutations. Thus mutations in biglycan are not a common cause of neuromuscular disorders in our cohort.
Keywords: Congenital muscular dystrophy; Biglycan; α-Dystroglycan; Collagen VI
Description: Copyright © 2008 Elsevier B.V. All rights reserved.
RMID: 0020082912
DOI: 10.1016/j.nmd.2008.05.013
Appears in Collections:Paediatrics publications

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