A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy

AJ van der Kooi; Marianne de Visser; M van Meegen; HB Ginjaar; AJ van Essen; FGI Jennekens; PJH Jongen; NJ Leschot; PA Bolhuis

A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy

AJ van der Kooi^*, Marianne de Visser, M van Meegen, HB Ginjaar, AJ van Essen, FGI Jennekens, PJH Jongen, NJ Leschot, PA Bolhuis

^*Corresponding author for this work

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

22 Citations (Scopus)

Abstract

Limb girdle muscular dystrophy is a heterogeneous group of disorders. One autosomal recessive subtype, LGMD2C, has been linked to chromosome 13, and is caused by gamma-sarcoglycan deficiency in muscle. This report describes a novel missense mutation identified in a large consanguineous Dutch family with LGMD. This mutation leads to reduction of gamma-sarcoglycan, and gives rise to a childhood-onset, slowly progressive dystrophy. (C) 1998 Elsevier Science B.V. All rights reserved

Original language	English
Pages (from-to)	305-308
Number of pages	4
Journal	Neuromuscular disorders
Volume	8
Issue number	5
Publication status	Published - Jun-1998
Event	2nd International Congress of the World-Muscle-Society - , Tunisia Duration: 16-Oct-1997 → 18-Oct-1997

Keywords

limb girdle muscular dystrophy
gamma-sarcoglycan
BETA-SARCOGLYCAN
LINKAGE
COMPLEX
GENE

Handle.net

Persistent link

Cite this

@article{d2c00e00076449339b0165e555cd10ff,

title = "A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy",

abstract = "Limb girdle muscular dystrophy is a heterogeneous group of disorders. One autosomal recessive subtype, LGMD2C, has been linked to chromosome 13, and is caused by gamma-sarcoglycan deficiency in muscle. This report describes a novel missense mutation identified in a large consanguineous Dutch family with LGMD. This mutation leads to reduction of gamma-sarcoglycan, and gives rise to a childhood-onset, slowly progressive dystrophy. (C) 1998 Elsevier Science B.V. All rights reserved",

keywords = "limb girdle muscular dystrophy, gamma-sarcoglycan, BETA-SARCOGLYCAN, LINKAGE, COMPLEX, GENE",

author = "{van der Kooi}, AJ and {de Visser}, Marianne and {van Meegen}, M and HB Ginjaar and {van Essen}, AJ and FGI Jennekens and PJH Jongen and NJ Leschot and PA Bolhuis",

year = "1998",

month = jun,

language = "English",

volume = "8",

pages = "305--308",

journal = "Neuromuscular disorders",

issn = "0960-8966",

publisher = "PERGAMON-ELSEVIER SCIENCE LTD",

number = "5",

note = "2nd International Congress of the World-Muscle-Society ; Conference date: 16-10-1997 Through 18-10-1997",

}

TY - JOUR

T1 - A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy

AU - van der Kooi, AJ

AU - de Visser, Marianne

AU - van Meegen, M

AU - Ginjaar, HB

AU - van Essen, AJ

AU - Jennekens, FGI

AU - Jongen, PJH

AU - Leschot, NJ

AU - Bolhuis, PA

PY - 1998/6

Y1 - 1998/6

N2 - Limb girdle muscular dystrophy is a heterogeneous group of disorders. One autosomal recessive subtype, LGMD2C, has been linked to chromosome 13, and is caused by gamma-sarcoglycan deficiency in muscle. This report describes a novel missense mutation identified in a large consanguineous Dutch family with LGMD. This mutation leads to reduction of gamma-sarcoglycan, and gives rise to a childhood-onset, slowly progressive dystrophy. (C) 1998 Elsevier Science B.V. All rights reserved

AB - Limb girdle muscular dystrophy is a heterogeneous group of disorders. One autosomal recessive subtype, LGMD2C, has been linked to chromosome 13, and is caused by gamma-sarcoglycan deficiency in muscle. This report describes a novel missense mutation identified in a large consanguineous Dutch family with LGMD. This mutation leads to reduction of gamma-sarcoglycan, and gives rise to a childhood-onset, slowly progressive dystrophy. (C) 1998 Elsevier Science B.V. All rights reserved

KW - limb girdle muscular dystrophy

KW - gamma-sarcoglycan

KW - BETA-SARCOGLYCAN

KW - LINKAGE

KW - COMPLEX

KW - GENE

M3 - Article

SN - 0960-8966

VL - 8

SP - 305

EP - 308

JO - Neuromuscular disorders

JF - Neuromuscular disorders

IS - 5

T2 - 2nd International Congress of the World-Muscle-Society

Y2 - 16 October 1997 through 18 October 1997

ER -