ACTA1
actin alpha 1, skeletal muscle
Ассоциированные заболевания
Герминативная мутация (причина)9
Severe congenital nemaline myopathyORPHA:171430
→Intermediate nemaline myopathyORPHA:171433
→Typical nemaline myopathyORPHA:171436
→Childhood-onset nemaline myopathyORPHA:171439
→Congenital fiber-type disproportion myopathyORPHA:2020
→Progressive scapulohumeroperoneal distal myopathyORPHA:447977
→Rigid spine syndromeORPHA:97244
→Zebra body myopathyORPHA:97240
→Congenital myopathy with excess of thin filamentsORPHA:98904
→