Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights
Makaleler > Tam Makale · 2017
Yazarlar: Uluc Yis, Kerstin Becker, Semra Hiz Kurul, Goekhan Uyanik, Erhan Bayram, Goknur Haliloglu, Ayse Ipek Polat, Muge Ayanoglu, Derya Okur, Ayse Fahriye Tosun, GÜL AKTAN, Sanem KESKİN YILMAZ, Haluk Topaloglu, Banu Anlar, Sebahattin ÇIRAK, Andrew G. Engel
JOURNAL OF CHILD NEUROLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2017, cilt 32, ss 759-765
Özet
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 Eylul 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.