☆ 4.2 Article

GNE myopathy: New name and new mutation nomenclature

NEUROMUSCULAR DISORDERS (2014)

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Journal

NEUROMUSCULAR DISORDERS
Volume 24, Issue 5, Pages 387-389

Publisher

PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2014.03.004

Keywords

Distal Myopathy with Rimmed Vacuoles (DMRV); Hereditary Inclusion Body Myopathy (HIBM); Inclusion Body Myopathy 2 (IBM2); Nonaka myopathy; Sialic acid; UDP-GlcNAc 2-epimersa/ManNAc kinase; GNE Myopathy

Categories

Clinical Neurology Neurosciences

Funding

  1. Intramural NIH HHS [ZIA HG200322-09] Funding Source: Medline

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