GNE myopathy: New name and new mutation nomenclature

被引：52
作者：
Huizing, Marjan [1 ]
Carrillo-Carrasco, Nuria [2 ]
Malicdan, May Christine V. [1 ]
Noguchi, Satoru [3 ]
Gahl, William A. [1 ]
Mitrani-Rosenbaum, Stella [4 ]
Argov, Zohar [5 ]
Nishino, Ichizo [3 ]
机构：
[1] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA
[2] Natl Ctr Adv Translat Sci, NIH, Bethesda, MD USA
[3] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, Tokyo, Japan
[4] Hadassah Hebrew Univ, Med Ctr, Goldyne Savad Inst Gene Therapy, Jerusalem, Israel
[5] Hadassah Hebrew Univ, Med Ctr, Dept Neurol, Jerusalem, Israel
来源：
NEUROMUSCULAR DISORDERS | 2014年 / 24卷 / 05期
关键词：
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; INCLUSION-BODY MYOPATHY; DISTAL MYOPATHY; RIMMED VACUOLES; KINASE; MAPS; GENE;
D O I：
10.1016/j.nmd.2014.03.004
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：387 / 389
页数：3
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