BAG3, BAG cochaperone 3, 9531

N. diseases: 223; N. variants: 31
Disease: Axial myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3267178
Disease: Axial myopathy
Axial myopathy 		0.010 GeneticVariation disease BEFREE Mutations in Bcl-2 associated athanogene-3 (BAG3) are a rare cause of myofibrillar myopathy, characterised by rapidly progressive proximal and axial myopathy, cardiomyopathy and respiratory compromise. 22734908 2012