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

Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations.

Muscle & nerve - 1 Aug 2021

Maselli Ricardo A, Wei David T, Hodgson Trent S, Sampson Jacinda B, Vazquez Jessica, Smith Heather L, Pytel Peter, Ferns Michael

Abstract excerpt

INTRODUCTION/AIMS: We studied a patient with a congenital myasthenic syndrome (CMS) caused by a dominant mutation in the synaptotagmin 2 gene (SYT2) and compared the clinical features of this patient with those of a previously described patient with a recessive mutation in the same gene. METHODS: We performed electrodiagnostic (EDX) studies, genetic studies, muscle biopsy, microelectrode recordings and electron...

Read the complete abstract on PubMed

Topics

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

Share to Autoimmune Neurological Disorders and Treatments
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycogen Storage Diseases and Myoclonus

Share to Muscle Weakness

Share to Mutation

Share to Myasthenia Gravis and Thymoma

Share to Myasthenic Syndromes, Congenital

Share to Neuromuscular Junction

Source

Identifiers

PMID: 34037996
DOI: 10.1002/mus.27332

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations.PMID 34037996Read ↗

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

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

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromesSemantic proximity Read ↗

Disease-causing mutations in Synaptotagmin can act via dominant-negative, gain-of-function or haploinsufficient mechanismsSemantic proximity Read ↗

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

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor NeuropathySemantic proximity Read ↗

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.Semantic proximity Read ↗

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.Semantic proximity Read ↗

Delineation of the pathogenic presynaptic mechanisms of synaptotagmin-1 variantsSemantic proximity Read ↗

Synaptotagmin-2, and -1, linked to neurotransmission impairment and vulnerability in Spinal Muscular Atrophy.Semantic proximity Read ↗

Genetic analysis of synaptotagmin C2 domain specificity in regulating spontaneous and evoked neurotransmitter release.Semantic proximity Read ↗

Validation of optogenetic approach to investigate fatigable weakness using a zebrafish model of <i>syt2</i> congenital myasthenic syndromeSemantic proximity Read ↗

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