GNE myopathy: New name and new mutation nomenclature
نویسندگان
چکیده
منابع مشابه
Autophagy in GNE Myopathy
Muscle diseases represent specific muscle pathology. The characteristic features as hallmarks of diseases have been historically used to diagnose the patients. The “Rimmed vacuole (RV)” (Figures 1) is one of such characteristic features in certain groups of the diseases. This structure consists of the space (vacuole) and purple granules (rim) within myofibers, while the space is sometimes occup...
متن کاملGNE 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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متن کاملA Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis. It is pathologically characterized by the presence of rimmed vacuoles (RVs), especially i...
متن کاملa new nomenclature for fungi
important changes brought about by the melbourne international code of nomenclature for algae,fungiandplantsare briefly reviewed concerning a clarification of the spelling and typification of sanctioned fungal names, the recognition of electronic publication for the validity of nomenclatural novelties, permission to use english diagnoses or descriptions for their valid publication, and the requ...
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ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 2014
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2014.03.004