FKRP, fukutin related protein, 79147

N. diseases: 248; N. variants: 71
Disease: Coronary Microvascular Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease 		0.010 GeneticVariation disease BEFREE Using AAV9-mediated overexpression of mutant human FKRP bearing the P448L mutation (mhFKRP-P448L) associated with severe congenital muscular dystrophy (CMD), we demonstrate the restoration of functional glycosylation of α-DG and reduction in markers of disease progression. 29858056 2018