MYL2, myosin light chain 2, 4633

N. diseases: 104; N. variants: 28
Disease: Congenital Fiber Type Disproportion ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.300 GermlineCausalMutation disease ORPHANET Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. 23365102 2013