ArticleJournal of child neurology2017
Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.
Article in Journal of child neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 34 citations in OpenAlex.
- Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1.Muscle & nerve · 2026Review
- Review of 40 genes causing congenital myasthenic syndromes.Journal of human genetics · 2025Review
- Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.Brain : a journal of neurology · 2024Article
- Mild phenotype ofFrontiers in pediatrics · 2024Article
- Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.Acta neurologica Belgica · 2023Article
- Article
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- Article
- Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.Brain and behavior · 2022Article
- [Genomics and proteomics in the research of neuromuscular diseases].Der Nervenarzt · 2022Review
- Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature.Frontiers in neurology · 2022Article
- Assembly of the Non-Canonical Myo9a-RhoGAP and RhoA·GDP Transition State Complex in the Presence of MgFThe protein journal · 2021Article
- First characterization of congenital myasthenic syndrome type 5 in North Africa.Molecular biology reports · 2021Article
- Congenital myasthenic syndrome caused by a frameshift insertion mutation inNeurology. Genetics · 2020Article
- Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.JCI insight · 2020Article
- Congenital Myasthenic Syndrome Caused by a Novel HemizygousFrontiers in pediatrics · 2020Article
- Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.Neuromuscular disorders : NMD · 2018Article
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Authors and funding
16 authors at 7 institutions in 4 countries.
Funding
Abstract
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the importance of genetic diagnosis. Here, the authors report on cases with genetically proven congenital myasthenic syndromes from Turkey. The authors retrospectively reviewed their experience of all patients with congenital myasthenic syndromes, referred over a 5-year period (2011-2016) to the Child Neurology Department of Dokuz Eylül University, Izmir, Turkey. In addition, PubMed was searched for published cases of genetically proven congenital myasthenic syndromes originating from Turkey. In total, the authors identified 43 (8 new patients, 35 recently published patients) cases. Defects in the acetylcholine receptor (n = 15; 35%) were the most common type, followed by synaptic basal-lamina associated (n = 14; 33%) and presynaptic syndromes (n = 10; 23%). The authors had only 3 cases (7%) who had defects in endplate development. One patient had mutation GFPT1 gene (n = 1; 2%). Knowledge on congenital myasthenic syndromes and related genes in Turkey will lead to prompt diagnosis and treatment of these rare neuromuscular disorders.
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