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Klin Padiatr 2018; 230(05): 281-283
DOI: 10.1055/a-0605-3659
Short Communication
© Georg Thieme Verlag KG Stuttgart · New York

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22

Kongenitales myasthenes Syndrom verursacht durch isolierte PREPL-Defizienz

Authors

  • Lucia Laugwitz

    1   Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

  • Silke Redler

    2   Heinrich Heine University, Institut für Humangenetik, Duesseldorf, Germany

  • Rebecca Buchert

    1   Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

  • Marc Sturm

    1   Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

  • Irene Zeile

    3   Department of General Pediatrics, Heinrich-Heine-University, Duesseldorf, Germany

  • Ulrike Schara

    4   Neuropediatrics, University Children's Hospital Essen, Essen, Germany

  • Dagmar Wieczorek

    2   Heinrich Heine University, Institut für Humangenetik, Duesseldorf, Germany

  • Tobias Haack

    1   Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

  • Felix Distelmaier

    3   Department of General Pediatrics, Heinrich-Heine-University, Duesseldorf, Germany
Further Information

Publication History

Publication Date:
18 June 2018 (online)

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