GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation

Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation...

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Bibliographic Details
Main Authors: Gulden Diniz, Yaprak Secil, Serdar Ceylaner, Figen Tokucoglu, Sabiha Türe, Mehmet Celebisoy, Tülay Kurt İncesu, Galip Akhan
Format: Article
Language:English
Published: Wiley 2016-01-01
Series:Case Reports in Neurological Medicine
Online Access:http://dx.doi.org/10.1155/2016/8647645
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