ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Nemaline Myopathy, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751656
Disease: Nemaline Myopathy, Autosomal Dominant
Nemaline Myopathy, Autosomal Dominant 		0.010 Biomarker disease BEFREE We present a five-generation family with a novel phenotype of autosomal dominant nemaline myopathy not linked to the three genes known to be causative for nemaline myopathy (alpha-tropomyosin-3, nebulin, and alpha-actin). 11731279 2002