全部
logo

Clinical impact of the TPM1 p.Tyr221Cys variant causing hypertrophic cardiomyopathy

Rapid Communications

Clinical impact of the TPM1 p.Tyr221Cys variant causing hypertrophic cardiomyopathy

Marinelli Alessio
Longo Giuliana
Cirigliano Vincenzo
Campopiano Esther
Dugo Clementina
Ghiselli Luca
Chiampan Andrea
Ferri Gianluca
Costa Alessandro
Bonapace Stefano
Lanzoni Laura
Molon Giulio
Genes & Diseases第12卷, 第5期纸质出版 2025-09-01在线发表 2025-02-26
5200

Hypertrophic cardiomyopathy (HCM) is a relatively common (about 1 in 500 in the general population) inherited cardiac condition characterized by hypertrophy of the left ventricle wall, usually the septum, not explained by other conditions. The most severe forms can be responsible for sudden cardiac death.

pic