Disease: Myofibrillar Myopathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myofibrillar Myopathy
CUI: C2678065
Disease: Myofibrillar Myopathy
0.710 GeneticVariation BEFREE In addition, the expressed S60C mutant myotilin protein displayed marked detergent insolubility in electroporated mouse muscle, similar to that observed in human MFM muscle with the same mutation. 22349301 2012
Myofibrillar Myopathy
CUI: C2678065
Disease: Myofibrillar Myopathy
0.710 CausalMutation CLINVAR