Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

1 Dec 2020

Abstract excerpt

Objective To report the identification of 2 new homozygous recessive mutations in the synaptotagmin 2 (SYT2) gene as the genetic cause of severe and early presynaptic forms of congenital myasthenic syndromes (CMSs). Methods Next-generation sequencing identified new homozygous intronic and frameshift mutations in the SYT2 gene as a likely cause of presynaptic CMS. We describe the clinical and electromyographic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Coagulation, Bradykinin, Polyphosphates, and Angioedema
Share to Glycogen Storage Diseases and Myoclonus
Share to Myasthenia Gravis and Thymoma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33659639
DOI: 10.1212/nxg.0000000000000534

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromesPMID 33659639Read ↗

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.Semantic proximity Read ↗

Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence.Semantic proximity Read ↗

Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations.Semantic proximity Read ↗

Congenital myasthenic syndromes: increasingly complex.Semantic proximity Read ↗

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.Semantic proximity Read ↗

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.Semantic proximity Read ↗

Congenital Myasthenic Syndromes in 2018.Semantic proximity Read ↗

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.Semantic proximity Read ↗

Congenital myasthenic syndromesSemantic proximity Read ↗

Expanding the genotype and phenotype spectrum of <i>SYT1</i>-associated neurodevelopmental disorderSemantic proximity Read ↗

Congenital myasthenic syndromes.Semantic proximity Read ↗

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.