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Clinical and Molecular Manifestations of Congenital Muscular Alpha-Dystroglycanopathy due to an ISPD Gene Mutation |
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| Authors: | Gençpınar P Uyanık G Haspolat Ş Oygür N Duman Ö |
| Institution: | 1.Department of Pediatric Neurology, Izmir Katip Celebi University, Izmir, Turkey ;2.Institut für Humangenetik, Universitatsklinikum Hamburg-Eppendorf, Hamburg, Germany ;3.Department of Neurology and Akdeniz University, Antalya, Turkey ;4.Department of Neonatology Akdeniz University, Antalya, Turkey ; |
| Abstract: | Neurophysiology - Congenital muscular alpha-dystroglycanopaties (MDDGAs) are rare congenital muscular dystrophies that are accompanied by a variety of brain and eye malformations. More than 19 gene... |
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