glycogen storage disease 15

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glycogen storage disease 152016-11-25T23:05:21+00:00

glycogen storage disease 15 

METABOLIC DISEASE

A metabolic disorder (OMIM:613507) characterised by weakness due to glycogen depletion in skeletal muscle, and cardiac arrhythmias, due to accumulation of abnormal storage material in the heart. Skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibres and mitochondrial proliferation.

Molecular pathology Defects of GYG1, which encodes glycogenin 1, a glycosyltransferase whose metabolic activity precedes that of glycogen synthase, cause glycogen storage disease 15. 

Synonyms Glycogenin deficiency, GSD15 

References http://www.uniprot.org/uniprot/P46976

http://www.omim.org/entry/613507

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