Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/53465
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dc.contributor.authorPeat, R.en
dc.contributor.authorGecz, J.en
dc.contributor.authorFallon, J.en
dc.contributor.authorTarpey, P.en
dc.contributor.authorSmith, R.en
dc.contributor.authorFutreal, P.en
dc.contributor.authorStratton, M.en
dc.contributor.authorLamande, S.en
dc.contributor.authorYang, N.en
dc.contributor.authorNorth, K.en
dc.date.issued2008en
dc.identifier.citationNeuromuscular Disorders, 2008; 18(8):606-609en
dc.identifier.issn0960-8966en
dc.identifier.issn1873-2364en
dc.identifier.urihttp://hdl.handle.net/2440/53465-
dc.descriptionCopyright © 2008 Elsevier B.V. All rights reserved.en
dc.description.abstractBiglycan 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.en
dc.description.statementofresponsibilityRachel 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. Northen
dc.language.isoenen
dc.publisherPergamon-Elsevier Science Ltden
dc.subjectCongenital muscular dystrophy; Biglycan; α-Dystroglycan; Collagen VIen
dc.titleExclusion of biglycan mutations in a cohort of patients with neuromuscular disordersen
dc.typeJournal articleen
dc.identifier.rmid0020082912en
dc.identifier.doi10.1016/j.nmd.2008.05.013en
dc.identifier.pubid41813-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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