Glykogenlagringssygdom V
Autosomal recessiv
Myofosforylasemangel (McArdles sygdom), også kaldet glykogenlagringssygdom type 5 (GSD5), er en alvorlig form for glykogenlagringssygdom, kendetegnet ved nedsat træningstolerance.
Analyserede gener
Også kendt som
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
