Klin Padiatr 2018; 230(05): 281-283
DOI: 10.1055/a-0605-3659
© 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