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Updated: Jan 8, 2026

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一种罕见的提丁基因突变导致阿曼人的高性心肌病

Kumayl Al-Lawati1, Madan M Maddali2

  • 1Department of Heart Failure and Implantable Devices, National Heart Center, The Royal Hospital, Muscat, Oman.

Sultan Qaboos University medical journal
|December 22, 2025
PubMed
概括

一种罕见的Titin基因突变导致了一名18岁女子患上过度缩小心肌病. 这种遗传性心脏病导致严重的左心室缩,胸痛,并需要植入式心脏转换器-除器.

关键词:
载体蛋白质是载体蛋白质的组成部分.案例报告案例报告病理起因 病理起因 病理起因基因检测 基因检测 基因检测遗传学 遗传学 是一个超性心肌病症 超性心肌病症左心室过度缩小的情况突变突变是一种突变.阿曼阿曼阿曼阿曼阿曼阿曼阿曼阿曼病理学 病理学 病理学腹腔室外流阻塞 阻塞 腹腔室外流阻塞

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