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Summary
GLYCOGEN STORAGE DISEASE TYPE 0b
GSD0b
611556
OMIM = Online Medalian Inheritance of Men
137625
19q13.33
rare
autosomal recessive
mutation in the GYS1 gene
symptoms
cardiac arrest
cardiomyopathy, hypertrophic
fainting (syncope)
mental retardation
muscle weakness
onset, childhood
pain, muscle
seizures
laboratory finding
Glycogen synthase decreased activitymuscle
Glycogen decreasedmuscle
Literature
Badeloe Set al.Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literatureExp Dermatol159735-7412006
Deschauer Met al.Molecular and biochemical investigations in fumarase deficiencyMol Genet Metab882145-1522006