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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Detalles Bibliográficos
Autores principales: Diniz, Gulden, Secil, Yaprak, Ceylaner, Serdar, Tokucoglu, Figen, Türe, Sabiha, Celebisoy, Mehmet, İncesu, Tülay Kurt, Akhan, Galip
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4889787/
https://www.ncbi.nlm.nih.gov/pubmed/27298745
http://dx.doi.org/10.1155/2016/8647645

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4889787/
https://www.ncbi.nlm.nih.gov/pubmed/27298745
http://dx.doi.org/10.1155/2016/8647645

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