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RBM20変異は,カルシウム処理の障害に関連した不律性伸縮性心筋病を引き起こす

Maarten M G van den Hoogenhof1, Abdelaziz Beqqali1, Ahmad S Amin1

  • 1Department of Experimental Cardiology (M.M.G.v.d.H., A.B., A.S.A., I.v.d.M., S.A., M.A.F.K., C.A.S., J.A.J., C.A.R., A.o.V., A.B., Y.M.P., E.E.C.), Academic Medical Center, Amsterdam, The Netherlands.

Circulation
|April 14, 2018
PubMed
まとめ

RNA結合モチーフタンパク質20 (RBM20) の変異は,カルシウム処理を妨害することによって,拡張性心筋病における不律のリスクを高めます. ICa,L阻害剤が患者に有益であることを示唆する.

キーワード:
代替スプライシング心臓発作カルシウムカルシウムチャネル,L型心筋病 拡張性リボ核酸結合モチーフタンパク質 20,ヒト

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