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

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Authors and Affiliations

  1. Neurologische Universitätsklinik, Halle, Germany

    Pushpa Raj Joshi, Manuela Knape, Stephan Zierz & Marcus Deschauer

  2. Department of Neurology, Martin-Luther-Universität Halle-Wittenberg, Ernst-Grube-Str. 40, 06120, Halle (Saale), Germany

    Pushpa Raj Joshi

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  1. Pushpa Raj Joshi
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  2. Manuela Knape
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  3. Stephan Zierz
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  4. Marcus Deschauer
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Correspondence to Pushpa Raj Joshi.

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Joshi, P.R., Knape, M., Zierz, S. et al. Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset. Acta Neuropathol 117, 723–725 (2009). https://doi.org/10.1007/s00401-009-0524-1

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  • DOI: https://doi.org/10.1007/s00401-009-0524-1

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