Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies

J.S Beckmann; I Richard; O Broux; F Fougerousse; V Allamand; N Chiannilkulchai; L.E Lim; F Duclos; N Bourg; L Brenguier; P Pasturaud; F Quétier; C Roudaut; Y Sunada; J Meyer; P Dinçer; G Lefranc; L Merlini; H Topaloglu; F.M.S Tomé; D Cohen; C.E Jackson; K.P Campbell; M Fardeau

doi:10.1016/S0960-8966(96)00386-0

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Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies

Journal article

Peer reviewed

Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies

J.S Beckmann, I Richard, O Broux, F Fougerousse, V Allamand, N Chiannilkulchai, L.E Lim, F Duclos, N Bourg, L Brenguier, …

Neuromuscular disorders : NMD, Vol.6(6), pp.455-462

1996

DOI: 10.1016/S0960-8966(96)00386-0

PMID: 9027855

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Abstract

The autosomal recessive forms of limb-girdle muscular dystrophies are encoded by at least five distinct genes. The work performed towards the identification of two of these is summarized in this report. This success illustrates the growing importance of genetics in modern nosology.

LGMD

Limb girdle muscular dystrophy

positional cloning

Details

Title: Subtitle: Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies
Creators: J.S Beckmann - Généthon/CNRS URA 1922, Evry, France
I Richard - Généthon/CNRS URA 1922, Evry, France
O Broux - Généthon/CNRS URA 1922, Evry, France
F Fougerousse - Généthon/CNRS URA 1922, Evry, France
V Allamand - Généthon/CNRS URA 1922, Evry, France
N Chiannilkulchai - Généthon/CNRS URA 1922, Evry, France
L.E Lim - Howard Hughes Medical Institute, Iowa City, 10, USA
F Duclos - Howard Hughes Medical Institute, Iowa City, 10, USA
N Bourg - Généthon/CNRS URA 1922, Evry, France
L Brenguier - Généthon/CNRS URA 1922, Evry, France
P Pasturaud - Généthon/CNRS URA 1922, Evry, France
F Quétier - Généthon/CNRS URA 1922, Evry, France
C Roudaut - Généthon/CNRS URA 1922, Evry, France
Y Sunada - Howard Hughes Medical Institute, Iowa City, 10, USA
J Meyer - Howard Hughes Medical Institute, Iowa City, 10, USA
P Dinçer - Hacettepe University, Ankara, Turkey
G Lefranc - UMR CNRS 9942, Montpellier, France
L Merlini - Instituto Ortopedico Rizzoli, Bologna, Italy
H Topaloglu - Hacettepe University, Ankara, Turkey
F.M.S Tomé - INSERM U153, Paris, France
D Cohen - CEPH - Foundation Jean Dausset, Paris, France
C.E Jackson - Henry Ford Hospital, Detroit, MI, USA
K.P Campbell - Howard Hughes Medical Institute, Iowa City, 10, USA
M Fardeau - INSERM U153, Paris, France
Resource Type: Journal article
Publication Details: Neuromuscular disorders : NMD, Vol.6(6), pp.455-462
Publisher: Elsevier B.V
DOI: 10.1016/S0960-8966(96)00386-0
PMID: 9027855
ISSN: 0960-8966
eISSN: 1873-2364
Language: English
Date published: 1996
Academic Unit: Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
Record Identifier: 9984068383702771

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