GNE myopathy: New name and new mutation nomenclature

被引：56

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

页码：387 / 389

页数：3

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