Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy
نویسندگان
چکیده
منابع مشابه
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy
BACKGROUND GNE myopathy is a rare autosomal recessively inherited muscle disease resulting from mutations in the gene encoding GNE (UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase), a key enzyme in sialic acid biosynthesis. 154 different pathogenic variants have been previously associated with GNE myopathy. OBJECTIVE Describe novel pathogenic variants associated with GNE myopat...
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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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INTRODUCTION Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic disorders lead to low diagnostic rates with targeted single-gene sequencing. This is true for the most prevalent form of hIBM, GNEpathy. Therefore, we used whole-exome sequencing (WES) to determine whethe...
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ژورنال
عنوان ژورنال: Journal of Neuromuscular Diseases
سال: 2015
ISSN: 2214-3599,2214-3602
DOI: 10.3233/jnd-150074