DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769658853
rs769658853
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0410173
Disease:
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		0.010 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