Glikogeno kaupimosi liga V
Autosominis recesyvinis
Miofosforilazės trūkumas (McArdle liga), arba glikogeno kaupimosi liga V tipo (GSD5), yra sunki glikogeno kaupimosi ligos forma, pasireiškianti fizinio krūvio netoleravimu.
Tiriami genai
Taip pat žinoma kaip
glycogen storage disease caused by mutation in PYGM; glycogen storage disease type 5; glycogen storage disease type V; glycogenosis due to muscle glycogen phosphorylase deficiency; glycogenosis type 5; glycogenosis type V; GSD due to muscle glycogen phosphorylase deficiency; GSD type 5; GSD type V; GSD5; McArdle disease; McArdle type glycogen storage disease; myophosphorylase deficiency; PYGM glycogen storage disease
