SGCG, sarcoglycan gamma, 6445

N. diseases: 93; N. variants: 33
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		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
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		1.000 CausalMutation disease CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273 2017
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		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
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		1.000 GeneticVariation disease CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273 2017
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		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
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		1.000 GeneticVariation disease CLINVAR Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle. 25605665 2015
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		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
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		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
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		1.000 GeneticVariation disease CLINVAR Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C. 24638197 2014
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		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
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		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
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		1.000 CausalMutation disease CLINVAR Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression. 23929688 2014
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		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
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		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
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		1.000 GeneticVariation disease CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924 2012
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		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
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		1.000 CausalMutation disease CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924 2012
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		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
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		1.000 CausalMutation disease CLINVAR Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. 20623375 2010
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		1.000 CausalMutation disease CLINVAR C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy. 20345928 2010
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		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
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		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
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		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
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		1.000 CausalMutation disease CLINVAR Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. 17897828 2008
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		1.000 GeneticVariation disease CLINVAR Revised spectrum of mutations in sarcoglycanopathies. 18285821 2008