Universität zu Köln

Yis, Uluc, Becker, Kerstin, Kurul, Semra Hiz, Uyanik, Goekhan, Bayram, Erhan, Haliloglu, Goknur, Polat, Ayse Ipek, Ayanoglu, Muge, Okur, Derya, Tosun, Ayse Fahriye, Serdaroglu, Gul, Yilmaz, Sanem, Topaloglu, Haluk, Anlar, Banu, Cirak, Sebahattin and Engel, Andrew G. (2017). Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights. J. Child Neurol., 32 (8). S. 759 - 766. THOUSAND OAKS: SAGE PUBLICATIONS INC. ISSN 1708-8283

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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 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Yis, Uluc UNSPECIFIED UNSPECIFIED UNSPECIFIED Becker, Kerstin UNSPECIFIED UNSPECIFIED UNSPECIFIED Kurul, Semra Hiz UNSPECIFIED UNSPECIFIED UNSPECIFIED Uyanik, Goekhan UNSPECIFIED UNSPECIFIED UNSPECIFIED Bayram, Erhan UNSPECIFIED UNSPECIFIED UNSPECIFIED Haliloglu, Goknur UNSPECIFIED UNSPECIFIED UNSPECIFIED Polat, Ayse Ipek UNSPECIFIED UNSPECIFIED UNSPECIFIED Ayanoglu, Muge UNSPECIFIED UNSPECIFIED UNSPECIFIED Okur, Derya UNSPECIFIED UNSPECIFIED UNSPECIFIED Tosun, Ayse Fahriye UNSPECIFIED UNSPECIFIED UNSPECIFIED Serdaroglu, Gul UNSPECIFIED UNSPECIFIED UNSPECIFIED Yilmaz, Sanem UNSPECIFIED UNSPECIFIED UNSPECIFIED Topaloglu, Haluk UNSPECIFIED UNSPECIFIED UNSPECIFIED Anlar, Banu UNSPECIFIED UNSPECIFIED UNSPECIFIED Cirak, Sebahattin UNSPECIFIED UNSPECIFIED UNSPECIFIED Engel, Andrew G. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-226216
DOI:	10.1177/0883073817705252
Journal or Publication Title:	J. Child Neurol.
Volume:	32
Number:	8
Page Range:	S. 759 - 766
Date:	2017
Publisher:	SAGE PUBLICATIONS INC
Place of Publication:	THOUSAND OAKS
ISSN:	1708-8283
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MISSENSE MUTATION; COLQ MUTATIONS; DIAGNOSIS; SCOLIOSIS Multiple languages Clinical Neurology; Pediatrics Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/22621