Add to ORKGLimb 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</p
Copyright © 2014 Gulden Diniz et al. This is an open access article distributed under the Creative C...
Item does not contain fulltextPheno- and genotype correlation is attempted in a Dutch cross-sectiona...
beta-Sarcoglycan, a 43 kDa dystrophin-associated glycoprotein, is an integral component of the dystr...
Limb girdle muscular dystrophy is a heterogeneous group of disorders. One autosomal recessive subtyp...
Limb-girdle muscular dystrophy type 2C is an autosomal-recessive disorder caused by mutations in gam...
Mutations in the human alpha-sarcoglycan gene on chro-mosome 17q21.2 have been shown to cause a seve...
BACKGROUND: The autosomal recessive limb-girdle muscular dystrophies (LGMDs) are a group of genetic...
The sarcoglycan complex is involved in the etiology of four autosomal recessive limb-girdle muscular...
Background: Limb-girdle muscular dystrophy (LGMD) is an increasingly heterogeneous category of inher...
The authors report a familial case of limb-girdle muscular dystrophy (LGMD) upon five subjects of si...
Limb-girdle muscular dystrophies (LGMD) are a hetero-geneous group of genetically determined disorde...
Background: Limb-girdle muscular dystrophy (LGMD) is an increasingly heterogeneous category of inher...
Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have ...
Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a clinically and genetically heterogen...
Background: Limb-girdle muscular dystrophy (LGMD) is an increasingly heterogeneous category of inher...
Copyright © 2014 Gulden Diniz et al. This is an open access article distributed under the Creative C...
Item does not contain fulltextPheno- and genotype correlation is attempted in a Dutch cross-sectiona...
beta-Sarcoglycan, a 43 kDa dystrophin-associated glycoprotein, is an integral component of the dystr...
Limb girdle muscular dystrophy is a heterogeneous group of disorders. One autosomal recessive subtyp...
Limb-girdle muscular dystrophy type 2C is an autosomal-recessive disorder caused by mutations in gam...
Mutations in the human alpha-sarcoglycan gene on chro-mosome 17q21.2 have been shown to cause a seve...
BACKGROUND: The autosomal recessive limb-girdle muscular dystrophies (LGMDs) are a group of genetic...
The sarcoglycan complex is involved in the etiology of four autosomal recessive limb-girdle muscular...
Background: Limb-girdle muscular dystrophy (LGMD) is an increasingly heterogeneous category of inher...
The authors report a familial case of limb-girdle muscular dystrophy (LGMD) upon five subjects of si...
Limb-girdle muscular dystrophies (LGMD) are a hetero-geneous group of genetically determined disorde...
Background: Limb-girdle muscular dystrophy (LGMD) is an increasingly heterogeneous category of inher...
Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have ...
Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a clinically and genetically heterogen...
Background: Limb-girdle muscular dystrophy (LGMD) is an increasingly heterogeneous category of inher...
Copyright © 2014 Gulden Diniz et al. This is an open access article distributed under the Creative C...
Item does not contain fulltextPheno- and genotype correlation is attempted in a Dutch cross-sectiona...
beta-Sarcoglycan, a 43 kDa dystrophin-associated glycoprotein, is an integral component of the dystr...