Table 1.

Description of the myopathic glycogen storage diseases considered in this systematic review

Disease	Enzymatic deficiency	OMIM	Gene affected	Tissue expression	Key clinical symptoms with HPO term identifier
GSD 0b	Muscle glycogen synthase	611556	GYSA1	Skeletal and cardiac muscle	Cardiomyopathy (0001638), Exercise intolerance (0003546)
GSD II/Pompe disease	Acid alpha-glucosidase deficiency	232300	GAA	Ubiquitous expression	Cardiomyopathy (0001638), Hypotonia (0001290), Muscle weakness (0001324), Respiratory insufficiency (0002093)
GSD III/Forbes-Cori disease	Glycogen debrancher deficiency	232400	AGL	Skeletal muscle	Cardiomyopathy (0001638), Hepatomegaly (0002240), Muscle weakness (0001324)
GSD IV/Andersen disease	Glycogen branching enzyme deficiency	232500	GBE1	Skeletal muscle	Cardiomyopathy (0001638), Hepatomegaly (0002240), Muscle weakness (0001324)
GSD V/McArdle disease	Myophosphorylase deficiency	232600	PYGM	Skeletal muscle	Exercise intolerance (0003546), Myalgia 0003738), Muscle weakness (0001324)
GSD VII/Tarui disease	Muscle phosphofructokinase deficiency	232800	PFK	Skeletal muscle	Exercise intolerance (0003546), Hemolytic anemia (0001930), Muscle weakness (0001324)
GSD X	Muscle-specific Phosphoglycerate Mutase deficiency	261670	PGAM2	Ubiquitous expression	Exercise intolerance (0003546), Myalgia (0003738), Muscle weakness (0001324)
GSD XII	Aldolase a deficiency	611881	ALDOA	Skeletal muscle	Hemolytic anemia (0001930), Muscle weakness (0001324)
GSD XIII	Enolase 3 deficiency	612932	ENO3	Skeletal and cardiac muscle	Exercise intolerance (0003546), Myalgia 0003738), Muscle weakness (0001324)