ArticleNeuromuscular disorders : NMD2018
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.
Article in Neuromuscular disorders : NMD, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 22 papers, 3 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 3 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review.BMC neurology · 2025Pooled it
- Pharmacological Treatments for Congenital Myasthenic Syndromes Caused byCurrent neuropharmacology · 2023Pooled it
- Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports.Current neuropharmacology · 2021Pooled it
- Six-minute walk test to assess muscular fatigability and mobility in children with congenital myasthenic syndrome: a pilot study.Revista da Associacao Medica Brasileira (1992) · 2026Article
- Review of 40 genes causing congenital myasthenic syndromes.Journal of human genetics · 2025Review
- Epidemiological study of congenital myasthenic syndromes based on national electronic health database of Turkiye.Northern clinics of Istanbul · 2025Article
- Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.Brain : a journal of neurology · 2024Article
- Homozygosity of a Founder Variant c.1508dupC inNeurology. Genetics · 2024Article
- Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.Journal of neuromuscular diseases · 2024Article
- Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.Acta neurologica Belgica · 2023Article
- Homozygous Duplication in theBiomedicines · 2023Article
- Article
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre.Brain communications · 2023Article
- Guideline for the management of myasthenic syndromes.Therapeutic advances in neurological disorders · 2023Review
- Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.Journal of cellular and molecular medicine · 2022Article
- Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature.Frontiers in neurology · 2022Article
- Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine.Acta neurologica Belgica · 2021Article
- Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia.Neurology · 2020Article
- Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study.Frontiers in human neuroscience · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
Congenital myasthenic syndromes (CMS) are a group of hereditary disorders affecting the neuromuscular junction. Here, we present clinical, electrophysiological and genetic findings of 69 patients from 51 unrelated kinships from Turkey. Genetic tests of 60 patients were performed at Mayo Clinic. Median follow-up time was 9.8 years (range 1-22 years). The most common CMS was primary acetylcholine receptor (AChR) deficiency (31/51) and the most common mutations in AChR were c.1219 + 2T > G (12/51) and c.1327delG (6/51) in CHRNE. Four of our 5 kinships with AChE deficiency carried p.W148X that truncates the collagen domain of COLQ, and was previously reported only in patients from Turkey. These were followed by GFPT1 deficiency (4/51), DOK7 deficiency (3/51), slow channel CMS (3/51), fast channel CMS (3/51), choline acetyltransferase deficiency (1/51) and a CMS associated with desmin deficiency (1/51). Distribution of muscle weakness was sometimes useful in giving a clue to the CMS subtype. Presence of repetitive compound muscle action potentials pointed to AChE deficiency or slow channel CMS. Our experience confirms that one needs to be cautious using pyridostigmine, since it can worsen some types of CMS. Ephedrine/salbutamol were very effective in AChE and DOK7 deficiencies and were useful as adjuncts in other types of CMS. Long follow-up gave us a chance to assess progression of the disease, and to witness 12 mainly uneventful pregnancies in 8 patients. In this study, we describe some new phenotypes and detail the clinical features of the well-known CMS.
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