Canadian Medical Guide > Diseases > Musculoskeletal Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Glycogen Storage Disease Type VII Terms and Definitions




Glycogen Storage Disease Type VII

Medical Definition: 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.
Guide Notes: do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
Previously Indexed: Glycogenosis (1966-1974)

Glycogen Storage Disease Type VII Medical Definitions and Terms

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