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Updated: Jun 27, 2025

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韩国Nonaka远端肌肉病患者的衰退性GNE突变 有或没有外围神经病变的患者

Nasrin Tamanna1, Byung Kwon Pi1, Ah Jin Lee1

  • 1Department of Biological Sciences, Kongju National University, Gongju 32588, Republic of Korea.

Genes
|April 27, 2024
PubMed
概括

研究人员发现了五种新的GNE基因突变,与Nonaka远端肌肉病相关,这是一种罕见的遗传性肌肉疾病. 这些发现扩大了对GNE突变及其各种临床表现的理解.

关键词:
总的来说,GNE就是GNE.韩国 韩国人 韩国人 韩国人这种疾病叫做Nonaka远端肌肉病变.双基突变是双基突变.整体外因子测序的测序

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