Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency

Authors

  • Dr. Seiichi Tsujino MD,

    1. H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia–Presbyterian Medical Center, New York, New York
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  • Dr. Sara Shanske PhD,

    1. H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia–Presbyterian Medical Center, New York, New York
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  • Dr. Saburo Sakoda MD,

    1. Department of Neurology, University of Messina, Italy and Department of Neurology, Osaka Univeristy, Suita, Osaka, Japan
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  • Dr. Antonio Toscano MD,

    1. Department of Neurology, University of Messina, Italy and Department of Neurology, Osaka Univeristy, Suita, Osaka, Japan
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  • Dr. Salvatore DiMauro MD

    Corresponding author
    1. H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia–Presbyterian Medical Center, New York, New York
    • 4-420 College of Physicians and Surgeons, Columbia–Presbyterian Medical Center, 630 West 168th Street, New York, NY 10032
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Abstract

Phosphoglycerate mutase (PGAM; EC 2.7.5.3) catalyzes the interconversion of 2-phosphoglycerate and 3-phosphoglycerate in the glycolytic pathway. Hereditary muscle PGAM deficiency has been identified in 9 patients with myopathy. All patients had exercise introlerance and 6 had myoglobinuria. Seven of the 9 patients were African-Americans: 5 of them were homozygous for a nonsense mutation, TGG(Trp) to TAG at codon 78; 1 was a compound heterozygote for the nonsense mutation and a missense mutation, GAG(Glu) to GCG(Ala) at codon 89; and 1 could not be tested. The only 2 Caucasian patients, a brother and sister, were homozygous for a different missense mutation, CGG(Arg) to TGG(Trp) at codon 90. Despite the small number of patients identified, these findings indicate that there is a common mutation in African-Americans while there may be molecular genetic heterogeneity in other ethnic groups. © 1995 John Wiley & Sons, Inc.

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