Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
ACTA1
Alpha actin, skeletal muscle




1q42.1
* Congenital muscular dystrophy with rigid spine related to ACTA1 - (2.44, 3.3, 3.11, 3.38)
* Nemaline myopathy 3 - NEM3 (2.44, 3.3, 3.11, 3.38)
* myopathy, congenital, with fiber-type disproportion - CFTD (2.44, 3.3, 3.11, 3.38)