glycogen storage disease type VII

calbc-group:ANAT, calbc-group:CHEM, calbc-group:CONC, calbc-group:DISO, calbc-group:PHEN, calbc-group:PROC

MSH: An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.,CSP: autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle resulting in abnormal deposition of glycogen in muscle tissue; patients have severe congenital muscular dystrophy and are exercise intolerant.

umls-concept:C0017919

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