Genetic Landscape of Congenital Myasthenic Syndromes from Turkey: Novel Mutations and Clinical Insights

Uluç Yiş, Kerstin Becker, Semra Hlz Kurul, Gökhan Uyanik, Erhan Bayram, Göknur Halilolu, Ayşe Ipek Polat, Müge Ayanolu, Derya Okur, Ayşe Fahriye Tosun, Gül Serdarolu, Sanem Yilmaz, Haluk Topalolu, Banu Anlar, Sebahattin Cirak, Andrew G. Engel

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)759-765
Number of pages7
JournalJournal of child neurology
Issue number8
StatePublished - Jul 1 2017


  • Turk
  • congenital myasthenic syndromes
  • genetic diagnosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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