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アリトモゲン性右心室心筋病変症-重複症候群におけるチチンの遺伝的変化

Matthew Taylor1, Sharon Graw, Gianfranco Sinagra

  • 1Adult Medical Genetics Program and Division of Cardiology, University of Colorado Denver, Aurora, USA. Matthew.taylor@ucdenver.edu

Circulation
|August 4, 2011
PubMed
まとめ

タイチン遺伝子 (TTN) の変異は,遺伝的な心臓病であるリズム不振性右心室性心筋症 (ARVC) と関連しています. ティチン・スプリングの構造的変化がARVCを引き起こし,突然の心臓死につながる可能性があります.

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