Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease).

doi:10.1002/mus.880181409

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Article

Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease).

Muscle & nerve. Supplement - 1 Jan 1995

Raben N, Sherman J B, Adams E, Nakajima H, Argov Z, Plotz P

Abstract excerpt

Muscle phosphofructokinase (PFK-M) deficiency (glycogenosis type VII, Tarui's disease) is characterized by intolerance to vigorous exercise, often accompanied by myoglobinuria. The disease is inherited as an autosomal recessive trait. The clinical manifestations are similar to those in myophospho...

Topics

Adult
Aged
Base Sequence
Female
Glycogen Storage Disease Type VII
Humans
Jews
Male
Middle Aged
Molecular Sequence Data
Mutation
Phosphofructokinase-1

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