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

Genotypic and phenotypic spectrum of congenital myasthenic syndrome: Insights from Southeastern Türkiye.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2026

Cebeci Dilek, Aydin Seren, Unal Aysel, Esener Zeynep, Bas Hasan, Tekes Selahattin

Abstract excerpt

Congenital myasthenic syndromes (CMS) are inherited disorders caused by defects of the neuromuscular junction. Both the definitive diagnosis and the treatment are structured in accordance with genetic analysis. We aimed to investigate the clinical and genetic characteristics of CMS in a pediatric cohort from Southeastern Türkiye, a region with high rates of consanguineous marriage. The clinical features and...

Read the complete abstract on PubMed

Topics

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

Share to Acetylcholinesterase
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Collagen

Share to Consanguinity

Share to Muscle Proteins

Share to Myasthenic Syndromes, Congenital

Share to Turkey

Source

Identifiers

PMID: 42407161
DOI: 10.1016/j.ejpn.2026.07.001

Genes

COLQ
CHAT
DOK7
MYO9A
RAPSN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotypic and phenotypic spectrum of congenital myasthenic syndrome: Insights from Southeastern Türkiye.PMID 42407161Read ↗

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.Semantic proximity Read ↗

Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.Semantic proximity Read ↗

Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.Semantic proximity Read ↗

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.Semantic proximity Read ↗

Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia.Semantic proximity Read ↗

Clinical and genetic spectrum of congenital myasthenic syndromes in Palestine: a retrospective cohort of 35 genetically confirmed patientsSemantic proximity Read ↗

Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.Semantic proximity Read ↗

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.Semantic proximity Read ↗

Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.Semantic proximity Read ↗

DOK7 congenital myasthenic syndrome: case series and review of literature.Semantic proximity Read ↗

Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.Semantic proximity Read ↗

Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome.Semantic proximity Read ↗

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