ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Absence of muscle ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1456418
Disease: Absence of muscle
Absence of muscle 		0.010 GeneticVariation disease BEFREE It is suggested that the R133W beta-Tm mutation induces alteration in myosin-actin kinetics causing a reduced number of myosin molecules in the strong actin-binding state, resulting in overall muscle weakness in the absence of muscle wasting. 17430991 2007