Glycogen Storage Disease V
Autozomálně recesivní
Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.
Analyzované geny
Známé také jako
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
