title: GNE myopathy: new name and new mutation nomenclature.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: mhuizing@mail.nih.gov.
authors.forename: Marjan
authors.initials: M
authors.lastname: Huizing
authors.affiliation: Therapeutics for Rare and Neglected Diseases, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Nuria
authors.initials: N
authors.lastname: Carrillo-Carrasco
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: May Christine V
authors.initials: MC
authors.lastname: Malicdan
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Satoru
authors.initials: S
authors.lastname: Noguchi
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
authors.affiliation: Goldyne Savad Institute of Gene Therapy, Hadassah Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.
authors.forename: Stella
authors.initials: S
authors.lastname: Mitrani-Rosenbaum
authors.affiliation: Department of Neurology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Zohar
authors.initials: Z
authors.lastname: Argov
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D030541:Databases, Genetic; D049310:Distal Myopathies / Q000145:classification* / Q000235:genetics*; D006801:Humans; D009097:Multienzyme Complexes / Q000737:chemistry / Q000235:genetics*; D009154:Mutation; D020033:Protein Isoforms; D059368:RNA Isoforms; D009626:Terminology as Topic
chemical_list: D009097:Multienzyme Complexes; D020033:Protein Isoforms; D059368:RNA Isoforms; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase
keywords: Distal Myopathy with Rimmed Vacuoles (DMRV); GNE Myopathy; Hereditary Inclusion Body Myopathy (HIBM); Inclusion Body Myopathy 2 (IBM2); Nonaka myopathy; Sialic acid; UDP-GlcNAc 2-epimersa/ManNAc kinase