OnlineIMD
Glycogen storage disease type 5
(GSD5)
Synonym(s)
McArdle disease
,
Muscle glycogen phosphorylase deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
VMH
Gene
PYGM
/ Phosphorylase glycogen
11q13.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Glycogen phosphorylase, muscle
Pathway
Glycogen metabolism
Disease group(s)
3.4.3 Muscle glycogenoses