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Updated: Jul 7, 2026

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08:09

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在患有自体逆行性综合征扩展性心肌病症的个体中,WDR59发生了突变

Lama Alabdi1, Benjamin Cogne2,3,4, Ali S Almasood5

  • 1Department of Translational Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Clinical genetics
|February 20, 2026
PubMed
概括

在WDR59的遗传变异导致儿童的严重形式的儿科扩张性心肌病 (DCM). 这一发现暗示了GATOR2-mTORC1途径在DCM病原体中的作用,为研究提供了新的途径.

关键词:
在WDR59中使用了WDR59.在RNA-seqq.心肌病性心脏病 - 心肌病性心脏病非正典的变种是非正典的变种.

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