Condition: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)


rs104894422 in LOC107984585;SGCG gene and Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) PMID 20345928 2010 C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy.

PMID 22095924 2012 Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.

PMID 10714584 2000 Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.

PMID 14981741 2004 Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan.

PMID 9658457 1998 To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y.

PMID 8968757 1996 A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.

PMID 30345904 2018 Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

PMID 9781048 1998 The clinical severity of all patients demonstrates that the C283Y missense mutation in a homozygous state causes a severe LGMD2C (DMD-like).

PMID 25605665 2015 Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle.

PMID 9673983 1998 A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy.

PMID 19770540 2009 Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.

rs143009120 in SGCG gene and Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) PMID 10714584 2000 Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.

PMID 8968757 1996 A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.

PMID 30345904 2018 Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

PMID 27708273 2017 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

PMID 7481775 1995 Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.

PMID 24552312 2014 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.

PMID 20623375 2010 Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.

PMID 22240777 2012 A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.

PMID 23929688 2014 Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.

PMID 12040521 2002 [Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation].

PMID 12566530 2003 Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.

PMID 10942431 2000 Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.

PMID 11801399 2002 Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.

PMID 17897828 2008 Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.

PMID 19770540 2009 Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.

rs104894423 in SGCG;LOC107984585 gene and Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) PMID 16832103 2006 A novel mutation in two families with limb-girdle muscular dystrophy type 2C.

PMID 18285821 2008 Revised spectrum of mutations in sarcoglycanopathies.

PMID 25802879 2015 A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.

PMID 24534832 2014 Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C.

PMID 22095924 2012 Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.

PMID 27708273 2017 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

PMID 24638197 2014 Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C.

PMID 8923014 1996 Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.

PMID 9266733 1997 A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.

PMID 9781048 1998 Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene.

PMID 8968757 1996 A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.