ArticleNeuromuscular disorders : NMD2017
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
Article in Neuromuscular disorders : NMD, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Congenital myasthenic syndromes.Orphanet journal of rare diseases · 2019Pooled it
- Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1.Muscle & nerve · 2026Review
- Article
- Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.Brain : a journal of neurology · 2024Article
- Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.Molecular genetics & genomic medicine · 2024Article
- Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.Brain : a journal of neurology · 2024Article
- Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.Acta neurologica Belgica · 2023Article
- COLQ-related congenital myasthenic syndrome: An integrative view.Neurogenetics · 2023Article
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.Brain and behavior · 2022Article
- Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature.Frontiers in neurology · 2022Article
- Congenital myasthenic syndrome in China: genetic and myopathological characterization.Annals of clinical and translational neurology · 2021Article
- A Novel c.973G>T Mutation in the ε-subunit of the Acetylcholine Receptor Causing Congenital Myasthenic Syndrome in an Iranian Family.Balkan journal of medical genetics : BJMG · 2019Article
- Incidence and Ocular Features of Pediatric Myasthenias.American journal of ophthalmology · 2019Article
- No Hot Spot MutationsIranian journal of child neurology · 2019Article
- CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.Medicine · 2018Article
- Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.Neuromuscular disorders : NMD · 2018Article
- A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.Journal of neurology · 2018Article
- Article
- Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.Journal of child neurology · 2017Article
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 2 countries.
Funding
Abstract
The objective of the study was to evaluate the epidemiology of patients with congenital myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on the clinical symptoms and electrophysiological findings for known CMS. Additional specific tests were performed in patients of Iranian and/or Iraqi Jewish origin. All medical records were reviewed and clinical data, genetic mutations and outcomes were recorded. Forty-five patients with genetic mutations in known CMS genes from 35 families were identified. Mutations in RAPSN were identified in 13 kinships in Israel. The most common mutation was c.-38A>G detected in 8 patients of Iranian and/or Iraqi Jewish origin. Four different recessive mutations in COLQ were identified in 11 kinships, 10 of which were of Muslim-Arab descent. Mutations in CHRNE were identified in 7 kinships. Less commonly detected mutations were in CHRND, CHAT, GFPT1 and DOK7. In conclusion, mutations in RAPSN and COLQ are the most common causes of CMS in our cohort. Specific mutations in COLQ, RAPSN, and CHRNE occur in specific ethnic populations and should be taken into account when the diagnosis of a CMS is suspected.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.