Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family
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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ژورنال
عنوان ژورنال: Journal of Neuromuscular Diseases
سال: 2019
ISSN: 2214-3599,2214-3602
DOI: 10.3233/jnd-190383