Glycogen storage disease due to muscle phosphofructokinase deficiency

Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.

Proximal muscle weakness

A lack of strength of the proximal muscles.


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PMID (PMCID)