Article
Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.
Journal of child neurology - 1 Jul 2017
Yiş Uluç, Becker Kerstin, Kurul Semra Hız, Uyanik Gökhan, Bayram Erhan, Haliloğlu Göknur, Polat Ayşe İpek, Ayanoğlu Müge, Okur Derya, Tosun Ayşe Fahriye, Serdaroğlu Gül, Yilmaz Sanem, Topaloğlu Haluk, Anlar Banu, Cirak Sebahattin, Engel Andrew G
Abstract excerpt
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...
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