×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
UNIPROT
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
30345904
2018
×
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
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
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
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
CLINVAR
Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle.
25605665
2015
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
CausalMutation
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
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
Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C.
24638197
2014
×
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
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
CausalMutation
disease
CLINVAR
Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.
23929688
2014
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
CausalMutation
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
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
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
22095924
2012
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
CausalMutation
disease
CLINVAR
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
CausalMutation
disease
CLINVAR
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
22095924
2012
×
Entrez Id:
6445
Gene Symbol:
SGCG
SGCG
1.000
GeneticVariation
disease
BEFREE
In this study, we hypothesized that functional polymorphisms in genes involved in the mitochondrial apoptotic pathway might modulate the apoptotic capacity underlying the muscle loss and contributing to intrafamilial and interfamilial variable phenotypes in LGMD2C (Limb Girdle Muscular Dystrophy type 2C ) patients sharing the same c.521delT mutation in SGCG gene.
22367371
2012
×
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
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
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
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
We describe a 10-year-old girl with limb-girdle muscular dystrophy type 2C (LGMD2C , gamma-sarcoglycan deficiency) with additional features that include progressive lower limb spasticity, peripheral neuropathy, and ataxia.
19208398
2009
×
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
Revised spectrum of mutations in sarcoglycanopathies.
18285821
2008