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Article

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders.

Neuromuscular disorders : NMD - 1 Aug 2008

Peat Rachel A, Gécz Jozef, Fallon Justin R, Tarpey Patrick S, Smith Raffaella, Futreal Andrew, Stratton Michael R, Lamandé Shireen R, Yang Nan, North Kathryn N

Abstract excerpt

Biglycan has been considered a good candidate for neuromuscular disease based on direct interactions with collagen VI and alpha-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...

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Source

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Identifiers

PMID: 18602826
DOI: 10.1016/j.nmd.2008.05.013
PMCID: PMC2873833

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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