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Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease)
Author(s) -
Raben Nina,
Sherman Jeffrey B.,
Adams Elizabeth,
Nakajima Hiromu,
Argov Zohar,
Plotz Paul
Publication year - 1995
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880181409
Subject(s) - autosomal recessive trait , myoglobinuria , muscle biopsy , myopathy , genetics , disease , population , medicine , mutation , allele , biology , gene , biopsy , rhabdomyolysis , environmental health
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 myophosphorylase deficiency (McArdle's disease), and the diagnosis required demonstration of the enzyme defect in muscle biopsy. In the Western hemisphere PFK deficiency appears to be prevalent among people of Ashkenazi Jewish descent. To define the molecular basis of this myopathy, we have studied 11 Ashkenazi and 2 non‐Ashkenazi families with the disease. Ashkenazi patients share two common pathogenic mutations, a splicing defect and a nucleotide deletion, which account for ∼95% of mutant alleles. The molecular diagnosis is now possible in this population by using simple PCR‐based tests to screen for these mutations. © 1995 John Wiley & Sons, Inc.