go back

GLYCOGEN STORAGE DISEASE TYPE 0b

GLYCOGEN STORAGE DISEASE TYPE 0b
GSD0b
611556
OMIM = Online Mendelian Inheritance of Men
137625
Glycogen [starch] synthase, muscle
2.4.1.11
19q13.33
E74.0
rare
autosomal recessive
mutation in the GYS1 gene
Laboratory findings    Glycogen dec (muscle)
    Glycogen synthase dec (muscle)
Symptoms    cardiac arrest
    cardiomyopathy, hypertrophic
    exertion intolerance
    mental retardation
    muscle weakness
    onset, childhood
    pain, muscle
    seizures
    syncope