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Adverse clinical course and poor prognosis of hypertrophic cardiomyopathy due to mutations in FHL1.

作者信息

Gallego-Delgado Maria, Gonzalez-Lopez Esther, Garcia-Guereta Luis, Ortega-Molina Marta, Gonzalez-Vioque Emiliano, Cobo-Marcos Marta, Alonso-Pulpon Luis, Garcia-Pavia Pablo

机构信息

Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain.

Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain; Myocardial Biology Programme, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

出版信息

Int J Cardiol. 2015 Jul 15;191:194-7. doi: 10.1016/j.ijcard.2015.04.260. Epub 2015 May 1.

DOI:10.1016/j.ijcard.2015.04.260
PMID:25965631
Abstract
摘要

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Acta Myol. 2024 Dec;43(4):123-129. doi: 10.36185/2532-1900-604.
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Cardiomyopathy: pathogenesis and therapeutic interventions.心肌病：发病机制与治疗干预措施
MedComm (2020). 2024 Oct 25;5(11):e772. doi: 10.1002/mco2.772. eCollection 2024 Nov.
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Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers.肥厚型心肌病：遗传基础、结局、相互关系及其修饰因素。
Medicina (Kaunas). 2023 Aug 4;59(8):1424. doi: 10.3390/medicina59081424.
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Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report.在一名非梗阻性肥厚型心肌病和肌病患者中鉴定出新型FHL1突变变体——病例报告
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Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice.Fhl1 突变型雌性小鼠的心肌病和整合素-肌动蛋白信号改变。
Hum Mol Genet. 2019 Jan 15;28(2):209-219. doi: 10.1093/hmg/ddy299.