跨膜蛋白151A突变致发作性运动诱发性运动障碍1例

高琦, 尹浩军, 聂善化, 王丽静, 罗凯, 李震

武警医学 ›› 2026, Vol. 37 ›› Issue (4) : 343-346.

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武警医学 ›› 2026, Vol. 37 ›› Issue (4) : 343-346. DOI: 10.3969/j.issn.1004-3594.2026.04.014
临床经验总结

跨膜蛋白151A突变致发作性运动诱发性运动障碍1例

  • 高琦1, 尹浩军1, 聂善化2, 王丽静3, 罗凯1, 李震1
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摘要

发作性运动诱发性运动障碍(PKD)是一种罕见的由突然运动诱发的短暂性、重复性、可自行缓解的运动障碍疾病。原发性PKD多与富含脯氨酸跨膜蛋白2(PRRT2)基因突变有关,跨膜蛋白 151A(TMEM151A)基因突变为近年来新发现的致病基因。本文报道1例TMEM151A基因突变的PKD患者,通过分析该例患者临床表现特征、辅助检查及治疗转归,以期加深临床医师对PKD的认识,提高确诊率及治疗缓解率。

关键词

发作性运动诱发性运动障碍 / TMEM151A / 基因突变 / 临床表现 / 罕见病

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导出引用
高琦, 尹浩军, 聂善化, 王丽静, 罗凯, 李震. 跨膜蛋白151A突变致发作性运动诱发性运动障碍1例[J]. 武警医学. 2026, 37(4): 343-346 https://doi.org/10.3969/j.issn.1004-3594.2026.04.014
中图分类号: R746   

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