Isolated PREPL deficiency associated with congenital myasthenic syndrome-22

Klin Padiatr. 2018 Sep;230(5):281-283. doi: 10.1055/a-0605-3659. Epub 2018 Jun 18.

Authors

Lucia Laugwitz¹, Silke Redler², Rebecca Buchert¹, Marc Sturm¹, Irene Zeile³, Ulrike Schara⁴, Dagmar Wieczorek², Tobias Haack¹, Felix Distelmaier³

Affiliations

¹ Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
² Heinrich Heine University, Institut für Humangenetik, Duesseldorf, Germany.
³ Department of General Pediatrics, Heinrich-Heine-University, Duesseldorf, Germany.
⁴ Neuropediatrics, University Children's Hospital Essen, Essen, Germany.

PMID: 29913539
DOI: 10.1055/a-0605-3659

No abstract available

Publication types

Case Reports

MeSH terms

Endoscopy, Gastrointestinal
Gastrostomy
Humans
Mitochondrial Proteins / deficiency*
Mitochondrial Proteins / genetics
Motor Disorders
Muscle Hypotonia / etiology*
Mutation
Myasthenic Syndromes, Congenital / diagnosis*
Myasthenic Syndromes, Congenital / genetics
Phenotype
Serine Endopeptidases / deficiency*
Serine Endopeptidases / genetics

Substances

Mitochondrial Proteins
PREP protein, human
Serine Endopeptidases