ACTA1, actin alpha 1, skeletal muscle, 58

N. diseases: 217; N. variants: 59
Disease: Myofibrillar Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.120 GeneticVariation disease BEFREE Beyond the known disease genes DES, FLNC, MYOT, CRYAB, ZASP, BAG3, FHL1 and TTN, mutations in PLEC, ACTA1, HSPB8 and DNAJB6 have also been associated with a MFM phenotype. 27389816 2016
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.120 GeneticVariation disease BEFREE We conclude that mutations in ACTA1 can cause pathologic features consistent with myofibrillar myopathy, and mutations in ACTA1 should be considered in patients with severe congenital hypotonia associated with muscle weakness and features of myofibrillar myopathy. 25913210 2015
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.120 Biomarker disease HPO