Mutations in muscle phosphofructokinase gene.

  title={Mutations in muscle phosphofructokinase gene.},
  author={Nina Raben and Jes B. Sherman},
  journal={Human mutation},
  volume={6 1},
Mutations in the muscle phosphofructokinase gene (PFK-M) result in a metabolic myopathy characterized by exercise intolerance and compensated hemolysis. PFK deficiency, glycogenosis type VII (Tarui disease) is a rare, autosomal, recessively inherited disorder. Multiple mutations, including splicing defects, frameshifts, and missense mutations, have recently been identified in patients from six different ethnic backgrounds establishing genetic heterogeneity of the disease. There is no obvious… CONTINUE READING


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