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glykogenóza, typ VII

  1. Subject h.glykogenóza, typ VII
    Subject h.Glycogen Storage Disease Type VII
    Entry termschoroba z ukladania glykogénu, typ VII
    glykogenóza 7
    Taruiho choroba
    English X referencesGlycogenosis 7
    Tarui Disease
    Scope note in EnglishAn 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.
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