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Glycogen storage disease V
rareMyophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.
- Identifiers
- MONDO:0009293 OMIM:232600Orphanet:368
- Causal genes
- PYGM
- Part of
- Disorder of glycogen metabolism
- Also known as
- 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
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