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MTMR4 variants have opposite gene-specific impact on life-threatening arrhythmic risk in type 1 and 2 long QT syndrome.

期刊: European heart journal 日期: 2026-05-13 PMID: 42128250 浏览: 38
作者: Schwartz, Winbo, Sala, Crotti, Musu, Dagradi, Giovenzana, Dragani, Simonyté Sjödin, Lundström, Alberio, Pedrazzini, Nearing, Rydberg, Tse, Badilini, Verrier, Spazzolini, Gnecchi
Schwartz, Winbo, Sala, Crotti, Musu, Dagradi, Giovenzana, Dragani, Sjödin, S., Lundström, Alberio, Pedrazzini, Nearing, Rydberg, Tse, Badilini, Verrier, Spazzolini, & Gnecchi (2026). MTMR4 variants have opposite gene-specific impact on life-threatening arrhythmic risk in type 1 and 2 long QT syndrome.. European heart journal.
Schwartz, Winbo, Sala, Crotti, Musu, Dagradi, et al. MTMR4 variants have opposite gene-specific impact on life-threatening arrhythmic risk in type 1 and 2 long QT syndrome.. European heart journal. 2026; PMID: 42128250
Schwartz, Winbo, Sala, et al. MTMR4 variants have opposite gene-specific impact on life-threatening arrhythmic risk in type 1 and 2 long QT syndrome.[J]. European heart journal. 2026.
@article{schwartz2026,
  author = {Schwartz and Winbo and Sala and Crotti and Musu and Dagradi and Giovenzana and Dragani and Simonyté Sjödin and Lundström and Alberio and Pedrazzini and Nearing and Rydberg and Tse and Badilini and Verrier and Spazzolini and Gnecchi},
  title = {MTMR4 variants have opposite gene-specific impact on life-threatening arrhythmic risk in type 1 and 2 long QT syndrome.},
  journal = {European heart journal},
  year = {2026},
  note = {PMID: 42128250},
}
TY  - JOUR
AU  - Schwartz
AU  - Winbo
AU  - Sala
AU  - Crotti
AU  - Musu
AU  - Dagradi
AU  - Giovenzana
AU  - Dragani
AU  - Simonyté Sjödin
AU  - Lundström
AU  - Alberio
AU  - Pedrazzini
AU  - Nearing
AU  - Rydberg
AU  - Tse
AU  - Badilini
AU  - Verrier
AU  - Spazzolini
AU  - Gnecchi
TI  - MTMR4 variants have opposite gene-specific impact on life-threatening arrhythmic risk in type 1 and 2 long QT syndrome.
T2  - European heart journal
PY  - 2026
AN  - PMID:42128250
ER  - 

摘要

Modifier genes may cause different clinical phenotypes in patients with long QT syndrome (LQTS) carrying the same pathogenic variant. Variants in the MTMR4 gene have been previously associated, via patient-specific cardiomyocytes derived from induced pluripotent stem cells, with variable arrhythmic risk in a family with the p.Y111C-LQT1 mutation. This study aimed to evaluate the broader clinical impact of MTMR4 variants in patients with LQT1 and LQT2.

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