GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation
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چکیده
منابع مشابه
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 in the GNE gene. Both sisters had slightly higher levels of creatine kinase (CK) and muscle weak...
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ژورنال
عنوان ژورنال: Case Reports in Neurological Medicine
سال: 2016
ISSN: 2090-6668,2090-6676
DOI: 10.1155/2016/8647645