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

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

doi:10.1016/j.nmd.2008.05.013

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

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

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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.

Original language	English
Pages (from-to)	606-609
Number of pages	4
Journal	Neuromuscular Disorders
Volume	18
Issue number	8
DOIs	https://doi.org/10.1016/j.nmd.2008.05.013
Publication status	Published or Issued - Aug 2008
Externally published	Yes

Keywords

Biglycan
Collagen VI
Congenital muscular dystrophy
α-Dystroglycan

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Neurology
Clinical Neurology
Genetics(clinical)

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10.1016/j.nmd.2008.05.013

Cite this

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title = "Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders",

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 = "Biglycan, Collagen VI, Congenital muscular dystrophy, α-Dystroglycan",

author = "Peat, {Rachel A.} and Jozef G{\'e}cz and Fallon, {Justin R.} and Tarpey, {Patrick S.} and Raffaella Smith and Andrew Futreal and Stratton, {Michael R.} and Lamand{\'e}, {Shireen R.} and Nan Yang and North, {Kathryn N.}",

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doi = "10.1016/j.nmd.2008.05.013",

language = "English",

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T1 - Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders

AU - Peat, Rachel A.

AU - Gécz, Jozef

AU - Fallon, Justin R.

AU - Tarpey, Patrick S.

AU - Smith, Raffaella

AU - Futreal, Andrew

AU - Stratton, Michael R.

AU - Lamandé, Shireen R.

AU - Yang, Nan

AU - North, Kathryn N.

PY - 2008/8

Y1 - 2008/8

N2 - 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.

AB - 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.

KW - Biglycan

KW - Collagen VI

KW - Congenital muscular dystrophy

KW - α-Dystroglycan

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DO - 10.1016/j.nmd.2008.05.013

M3 - Article

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AN - SCOPUS:48549092255

SN - 0960-8966

VL - 18

SP - 606

EP - 609

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 8

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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