POMT1
protein O-mannosyltransferase 1
Ассоциированные заболевания
Герминативная мутация (причина)5
Congenital muscular dystrophy with cerebellar involvementORPHA:370959
→Congenital muscular dystrophy with intellectual disabilityORPHA:370968
→Congenital muscular dystrophy without intellectual disabilityORPHA:370980
→Muscle-eye-brain diseaseORPHA:588
→POMT1-related limb-girdle muscular dystrophy R11ORPHA:86812
→Disease-causing germline mutation(s) (loss of function) in1