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
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
› Author Affiliations
Further Information

Publication History

Publication Date:
18 June 2018 (online)