ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Secondary myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270992
Disease: Secondary myopathy
Secondary myopathy 		0.010 GeneticVariation disease BEFREE Patients with nemaline myopathy secondary to mutations in the skeletal muscle alpha-actin (ACTA1) gene showed diffuse involvement of thigh and leg muscles with relative sparing of the gastrocnemii. 15564032 2004