BACE2, beta-secretase 2, 25825

N. diseases: 54; N. variants: 6
Disease: NONAKA MYOPATHY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.010 AlteredExpression disease BEFREE Our studies demonstrate that BACE1 and BACE2 (a) are expressed in normal adult muscle at the postsynaptic domain of neuromuscular junctions, and in cultured human muscle; (b) are accumulated in the form of plaque-like inclusions in both s-IBM and h-IBM vacuolated muscle fibers; and (c) are immunoreactive in necrotizing muscle fibers. 12618121 2003