Mutation Update forGNEGene Variants Associated with GNE Myopathy
نویسندگان
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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GNE myopathy (previous names: HIBM, DMRV, IBM2) is a unique distal myopathy with quadriceps sparing. This recessively inherited myopathy has been diagnosed in various regions of the world with more than 150 disease-causing mutations already identified. Several of those are proven or suspected to be founder mutations in certain regional clusters and are described in this review. The review also ...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2014
ISSN: 1059-7794
DOI: 10.1002/humu.22583