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Definition

A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation.

Acronym

GSD15

Synonyms

Glycogenin deficiency
Glycogen storage disease XV
GSD XV
GYG1 deficiency

Keywords

Glycogen storage disease

 
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