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Updated: May 11, 2026

Isolation and Characterization of Cardiac Mesenchymal Stromal Cells from Endomyocardial Bioptic Samples of Arrhythmogenic Cardiomyopathy Patients
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拡張性心筋疾患におけるデスミン変異の有病率

Matthew R G Taylor1, Dobromir Slavov, Lisa Ku

  • 1University of Colorado at Denver and Health Sciences Center, Denver, Colo, USA. Matthew.Taylor@UCHSC.edu

Circulation
|February 28, 2007
PubMed
まとめ

デスミン遺伝子 (DES) 変異は,骨格筋疾患がない場合でも,拡張性心筋病 (DCM) 症例の1~2%で発見されています. 1Aと2Bドメインの両方の変異はDCMを引き起こすことができ,いくつかの変異はdesminネットワークにそれほど深刻ではない影響を与える.

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