SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Disease: Becker Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.010 AlteredExpression disease BEFREE We describe a case of Becker muscular dystrophy (BMD) with a remarkable reduction in activity of the acid α-glucosidase (GAA) enzyme, caused by a combination of pathogenic mutation and polymorphism variants resulting in pseudodeficiency in GAA. 29778277 2018