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
0.020 GeneticVariation BEFREE We identified five new families with the p.C30071R mutation who were clinically similar to previously reported cases, and muscle pathology demonstrated diagnostic features of MFM. 23486992 2014
Myofibrillar Myopathy
CUI: C2678065
Disease: Myofibrillar Myopathy
0.020 GeneticVariation BEFREE Screening of 45 probands initially diagnosed as myofibrillar myopathy (MFM) but excluded based on molecular screening for the known MFM genes led to the identification of a previously reported TTN p.Cys30071Arg mutation in one patient. 23514108 2013