Back to search

Article

Clinical and genetic spectrum of congenital myasthenic syndromes in Palestine: a retrospective cohort of 35 genetically confirmed patients 

2026-08-11

Abstract excerpt

<title>Abstract</title> <p>Background Congenital myasthenic syndromes (CMS) are rare inherited disorders of neuromuscular transmission with marked genetic and clinical heterogeneity. Because disease severity, respiratory involvement, and treatment response vary by genotype, molecular diagnosis has direct clinical relevance. The genetic spectrum and clinical burden of CMS in Palestine have not previously been sys...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
f05e6f34-b401-5855-9beb-e16d3e9c6641
DOI
10.21203/rs.3.rs-10362003/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Clinical and genetic spectrum of congenital myasthenic syndromes in Palestine: a retrospective cohort of 35 genetically confirmed patientsDOI 10.21203/rs.3.rs-10362003/v1
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.Semantic proximity
Genotypic and phenotypic spectrum of congenital myasthenic syndrome: Insights from Southeastern Türkiye.Semantic proximity
Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia.Semantic proximity
Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.Semantic proximity
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.Semantic proximity
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.Semantic proximity
Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.Semantic proximity
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.Semantic proximity
Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome.Semantic proximity
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.Semantic proximity
Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features.Semantic proximity
Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.Semantic proximity
Select a neighboring publication to make it the new centre.