Acta Neuropathologica

, Volume 117, Issue 6, pp 723-725

First online:

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

  • Pushpa Raj JoshiAffiliated withNeurologische UniversitätsklinikDepartment of Neurology, Martin-Luther-Universität Halle-Wittenberg Email author 
  • , Manuela KnapeAffiliated withNeurologische Universitätsklinik
  • , Stephan ZierzAffiliated withNeurologische Universitätsklinik
  • , Marcus DeschauerAffiliated withNeurologische Universitätsklinik

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