GNE myopathy: new name and new mutation nomenclature

Marjan Huizing; Nuria Carrillo-Carrasco; May Christine V Malicdan; Satoru Noguchi; William A Gahl; Stella Mitrani-Rosenbaum; Zohar Argov; Ichizo Nishino

doi:10.1016/j.nmd.2014.03.004

GNE myopathy: new name and new mutation nomenclature

Neuromuscul Disord. 2014 May;24(5):387-9. doi: 10.1016/j.nmd.2014.03.004. Epub 2014 Mar 13.

Authors

Marjan Huizing¹, Nuria Carrillo-Carrasco², May Christine V Malicdan³, Satoru Noguchi⁴, William A Gahl³, Stella Mitrani-Rosenbaum⁵, Zohar Argov⁶, Ichizo Nishino⁴

Affiliations

¹ Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: mhuizing@mail.nih.gov.
² Therapeutics for Rare and Neglected Diseases, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
³ Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
⁴ Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
⁵ Goldyne Savad Institute of Gene Therapy, Hadassah Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.
⁶ Department of Neurology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

No abstract available

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.

MeSH terms

Databases, Genetic
Distal Myopathies / classification*
Distal Myopathies / genetics*
Humans
Multienzyme Complexes / chemistry
Multienzyme Complexes / genetics*
Mutation*
Protein Isoforms
RNA Isoforms
Terminology as Topic

Substances

Multienzyme Complexes
Protein Isoforms
RNA Isoforms
UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase

Supplementary concepts

Distal myopathy, Nonaka type

Grants and funding

ZIA HG200322-09/Intramural NIH HHS/United States