Acta Neuropathologica

, Volume 117, Issue 6, pp 723–725

Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset

  • Pushpa Raj Joshi
  • Manuela Knape
  • Stephan Zierz
  • Marcus Deschauer
Correspondence

References

  1. 1.
    DiMauro S, Miranda AF, Olarte M, Friedman R, Hays AP (1982) Muscle phosphoglycerate mutase deficiency. Neurology 32:584–591PubMedGoogle Scholar
  2. 2.
    Hadjigeorgiou GM, Kawashima N, Bruno C et al (1999) Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle specific phosphoglycerate mutase (PGAM-M) gene. Neuromuscul Disord 9:399–402. doi:10.1016/S0960-8966(99)00039-5 PubMedCrossRefGoogle Scholar
  3. 3.
    Oh SJ, Park K-S, Ryan HF et al (2006) Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency. Muscle Nerve 34:572–576. doi:10.1002/mus.20622 PubMedCrossRefGoogle Scholar
  4. 4.
    Sutherland EW, Posternak T, Cori CF (1949) Mechanism of the phosphoglyceric mutase reaction. J Biol Chem 181:153–159PubMedGoogle Scholar
  5. 5.
    Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S (1993) The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am J Hum Genet 52:472–477PubMedGoogle Scholar
  6. 6.
    Tsujino S, Shanske S, Sakoda S, Toscano A, DiMauro S (1995) Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency. Muscle Nerve 3:S50.3PubMedGoogle Scholar
  7. 7.
    Vita G, Toscano A, Bresolin N et al (1994) Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and 31P-MR spectroscopy. J Neurol 241:289–294. doi:10.1007/BF00868435 PubMedCrossRefGoogle Scholar
  8. 8.
    Vockley J, Rinaldo P, Benett MJ, Matern D, Vladutiu GD (2000) Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab 71:10–18. doi:10.1006/mgme.2000.3066 PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Pushpa Raj Joshi
    • 1
    • 2
  • Manuela Knape
    • 1
  • Stephan Zierz
    • 1
  • Marcus Deschauer
    • 1
  1. 1.Neurologische UniversitätsklinikHalleGermany
  2. 2.Department of NeurologyMartin-Luther-Universität Halle-WittenbergHalle (Saale)Germany

Personalised recommendations