glycogen storage disease type 15

A metabolic disorder (OMIM:613507) characterised by weakness due to glycogen depletion in skeletal muscle, and 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 type 15.

单词	glycogen storage disease type 15
释义	glycogen storage disease type 15 glycogen storage disease type 15 A metabolic disorder (OMIM:613507) characterised by weakness due to glycogen depletion in skeletal muscle, and 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 type 15.
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