×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
CLINVAR
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
9266733
1997
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
Biomarker
disease
BEFREE
While calf muscle hypertrophy is a striking diagnostic finding in sarcoglycanopathy, as it is in Duchenne and Becker muscular dystrophies, its pathogenetic mechanism remains unknown. gamma-Sarcoglycan , one of the subunits of the sarcoglycan complex, is the protein responsible for gamma-sarcoglycanopathy .
12609501
2003
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
CLINVAR
A novel mutation in two families with limb-girdle muscular dystrophy type 2C.
16832103
2006
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
BEFREE
Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.
24552312
2014
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
CLINVAR
Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.
11801399
2002
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
CausalMutation
disease
CLINVAR
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
20623375
2010
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
CausalMutation
disease
CLINVAR
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
27708273
2017
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
CLINVAR
Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C.
24638197
2014
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
CausalMutation
disease
CLINVAR
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
17897828
2008
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
CLINVAR
Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.
19770540
2009
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
CausalMutation
disease
CLINVAR
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.
12566530
2003
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
CausalMutation
disease
CLINVAR
[Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation].
12040521
2002
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
CausalMutation
disease
CLINVAR
Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.
19770540
2009
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
BEFREE
Limb-girdle muscular dystrophy type 2C (LGMD-2C ) is caused by mutations in γ-sarcoglycan and is a devastating, progressive, and fully lethal human muscle-wasting disease that has no effective treatment.
27935071
2017
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
BEFREE
The human gamma-sarcoglycan gene was mapped to chromosome 13q12, and deletions that alter its reading frame were identified in three families and one of four sporadic cases of SCARMD .
7481775
1995
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
CausalMutation
disease
CLINVAR
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.
10942431
2000
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
CLINVAR
Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C.
24534832
2014
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
CausalMutation
disease
CLINVAR
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
7481775
1995
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
Biomarker
disease
BEFREE
A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C .
22240777
2012
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
CLINVAR
Revised spectrum of mutations in sarcoglycanopathies.
18285821
2008
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
Biomarker
disease
MGD
While calf muscle hypertrophy is a striking diagnostic finding in sarcoglycanopathy, as it is in Duchenne and Becker muscular dystrophies, its pathogenetic mechanism remains unknown. gamma-Sarcoglycan , one of the subunits of the sarcoglycan complex, is the protein responsible for gamma-sarcoglycanopathy .
12609501
2003
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
CausalMutation
disease
CLINVAR
C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy.
20345928
2010
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
CLINVAR
A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy.
9673983
1998
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
CLINVAR
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.
25802879
2015
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
BEFREE
One form of this disorder, limb-girdle muscular dystrophy type 2C (LGMD 2C), is prevalent in northern Africa and has been shown to be associated with a single mutation in the gene encoding the dystrophin-associated protein gamma-sarcoglycan .
8900232
1996