GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation

  title={GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation},
  author={Gulden Diniz and Yaprak Seçil and Serdar Ceylaner and Figen Tokuçoğlu and Sabiha T{\"u}re and Mehmet Çelebisoy and T{\"u}lay Kurt Incesu and Galip Akhan},
  booktitle={Case reports in neurological medicine},
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 weakness. The older sister presented at 38 years of age with an inability to climb steps, weakness, and a… CONTINUE READING
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