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

S. Tsujino, S. Shanske, S. Sakoda, A. Toscano, S. DiMauro

Research output: Contribution to journalArticle

20 Citations (Scopus)

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 intolerance 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.

Original languageEnglish
JournalMuscle and Nerve
Volume18
Issue numberSUPPL. 3
Publication statusPublished - 1995

Fingerprint

Phosphoglycerate Mutase
Molecular Biology
Muscles
Nonsense Codon
Missense Mutation
Codon
African Americans
Siblings
Myoglobinuria
Genetic Heterogeneity
Terminator Codon
Muscular Diseases
Heterozygote
Ethnic Groups
Exercise
Mutation

Keywords

  • genetic mutation
  • metabolic myopathy
  • molecular genetic heterogeneity
  • muscle phosphoglycerate mutase deficiency
  • phosphoglycerate mutase

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Tsujino, S., Shanske, S., Sakoda, S., Toscano, A., & DiMauro, S. (1995). Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency. Muscle and Nerve, 18(SUPPL. 3).

Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency. / Tsujino, S.; Shanske, S.; Sakoda, S.; Toscano, A.; DiMauro, S.

In: Muscle and Nerve, Vol. 18, No. SUPPL. 3, 1995.

Research output: Contribution to journalArticle

Tsujino, S, Shanske, S, Sakoda, S, Toscano, A & DiMauro, S 1995, 'Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency', Muscle and Nerve, vol. 18, no. SUPPL. 3.
Tsujino S, Shanske S, Sakoda S, Toscano A, DiMauro S. Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency. Muscle and Nerve. 1995;18(SUPPL. 3).
Tsujino, S. ; Shanske, S. ; Sakoda, S. ; Toscano, A. ; DiMauro, S. / Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency. In: Muscle and Nerve. 1995 ; Vol. 18, No. SUPPL. 3.
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