Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.830 GeneticVariation 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
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.830 CausalMutation CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924 2012
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.830 CausalMutation CLINVAR C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy. 20345928 2010
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.830 CausalMutation CLINVAR Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan. 14981741 2004
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.830 GeneticVariation BEFREE Limb-girdle muscular dystrophy type 2C (LGMD2C) is caused by mutations in the gamma-sarcoglycan gene where a founder Gypsy mutation C283Y was detected. 15479193 2004
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.830 GeneticVariation BEFREE Thorough non-invasive cardiovascular studies were conducted in a series of ten gamma-sarcoglycanopathy Gypsy patients with the founder C283Y mutation in 13q12. 11053682 2000
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.830 GeneticVariation UNIPROT Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. 10714584 2000
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.830 CausalMutation CLINVAR To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y. 9658457 1998
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.830 CausalMutation CLINVAR The clinical severity of all patients demonstrates that the C283Y missense mutation in a homozygous state causes a severe LGMD2C (DMD-like). 9781048 1998
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.830 GeneticVariation BEFREE The clinical severity of all patients demonstrates that the C283Y missense mutation in a homozygous state causes a severe LGMD2C (DMD-like). 9781048 1998
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.830 GeneticVariation UNIPROT A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. 8968757 1996
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
0.830 GeneticVariation CLINVAR