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Article

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22.

Klinische Padiatrie - 1 Sept 2018

Laugwitz Lucia, Redler Silke, Buchert Rebecca, Sturm Marc, Zeile Irene, Schara Ulrike, Wieczorek Dagmar, Haack Tobias, Distelmaier Felix

Abstract excerpt

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Share to Endoscopy, Gastrointestinal
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myasthenic Syndromes, Congenital

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Source

Identifiers

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

Genes

PREPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 9 closest

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22.PMID 29913539Read ↗

Clinical Manifestations and Genetic Insights Into Congenital Myasthenic Syndrome-22 in Pediatric Patients.Semantic proximity Read ↗

Missense mutations in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functionsSemantic proximity Read ↗

The second point mutation in PREPL: a case report and literature review.Semantic proximity Read ↗

A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.Semantic proximity Read ↗

PREPL deficiency: delineation of the phenotype and development of a functional blood assay.Semantic proximity Read ↗

Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria SyndromeSemantic proximity Read ↗

Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions.Semantic proximity Read ↗

PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients.Semantic proximity Read ↗

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.Semantic proximity Read ↗

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