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Article

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

Neurology - 8 Apr 2014

Régal Luc, Shen Xin-Ming, Selcen Duygu, Verhille Chantal, Meulemans Sandra, Creemers John W M, Engel Andrew G

Abstract excerpt

OBJECTIVE: To investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency, and their response to therapy. METHODS: We performed molecular genetic, histochemical, immunoblot, and ultrastructural studies, investiga...

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Share to Chromosomes, Human, Pair 2
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle, Skeletal

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Share to Myasthenic Syndromes, Congenital

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Source

Open in PubMed Open full text

Identifiers

PMID: 24610330
DOI: 10.1212/WNL.0000000000000295
PMCID: PMC4001208

Genes

PREPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24610330-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.PMID 24610330Read ↗

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Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myastheniaSemantic proximity Read ↗

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Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.Semantic proximity Read ↗

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

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