Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
ACTA1 Alpha actin, skeletal muscle       | 1q42.1 | * Congenital myopathy 2A, typical - CMYP2A (3.1, 3.2, 3.3, 3.52)* Nemaline myopathy 3 - NEM3 (3.1, 3.2, 3.2, 3.3, 3.52)* Congenital myopathy 2B, severe infantile - CMYP2B (3.1, 3.2, 3.2, 3.3, 3.52)* myopathy, congenital, with fiber-type disproportion - CFTD (3.1, 3.2, 3.2, 3.3, 3.52)* Left ventricular noncompaction 4 - LVNC4 (3.1, 3.2, 3.2, 3.3, 3.52)* Congenital myopathy 2C, severe infantile, dominant - CMYP2C (3.1, 3.2, 3.2, 3.3, 3.52) |