Childhood onset limb-girdle muscular dystrophies in the aegean part of Turkey
| Autor: | Yiş, U. and Diniz, G. and Hazan, F. and Daimagüler, H.S. and Baysal, B.T. and Baydan, F. and Akinci, G. and Ünalp, A. and Aktan, G. and Bayram, E. and Hiz, S. and Paketçi, C. and Okur, D. and Özer, E. and Danyeli, A.E. and Polat, M. and Uyanik, G. and Çirak, S. |
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| Přispěvatelé: | Dokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, 35340, Turkey, Neuromuscular Disease Center, Tepecik Research Hospital, İzmir, Turkey, Dr Behçet Uz Children's Research Hospital, Department of Medical Genetics, İzmir, Turkey, University Hospital Cologne, Department of Pediatrics, Cologne, Germany, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany, Dr Behçet Uz Children's Research Hospital, Department of Pediatric Neurology, İzmir, Turkey, Ege University, School of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey, Dokuz Eylül University, School of Medicine, Department of Pathology, İzmir, Turkey, Celal Bayar University, School of Medicine, Department of Pediatrics, Division of Child Neurology, Manisa, Turkey, Center for Medical Genetics, Hanusch Hospital, Vienna, Austria, Medical Faculty, Sigmund Freud Private University, Vienna, Austria |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Popis: | The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where SGCG proved to be disease-causing in most of the cases. About half of the patients were diagnosed with whole exome or targeted gene sequencing. A positive correlation between muscle biopsy and genetic findings were observed in 11% of the patients. We report one novel frameshifting mutation in TTN. Knowledge on frequencies of childhood-onset limb-girdle muscular dystrophies and related genes in Turkey will lead to a prompt diagnosis of these neuromuscular disorders. © 2018 Pacini Editore S.p.A. All rights reserved. |
| Databáze: | OpenAIRE |
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