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A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case.

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第一作者： Jose G,Acuña-Ochoa

第一单位： Cardiovascular Research Department, Lankenau Institute for Medical Research, Lankenau Hearth Institute, Wynnewood, Pennsylvania 19096, USA.

作者： Jose G,Acuña-Ochoa ^[1] ; Norma A,Balderrábano-Saucedo ^[2] ; Ana C,Cepeda-Nieto ^[3] ; Maria Y,Alvarado-Cervantes ^[1] ; Vianca L,Ibarra-Garcia ^[4] ; Daniel,Barr ^[5] ; Matthew J,Gage ^[6] ; Ryan,Pfeiffer ^[7] ; Dan,Hu ^[8] ; Hector,Barajas-Martinez ^[9]

作者单位： Cardiovascular Research Department, Lankenau Institute for Medical Research, Lankenau Hearth Institute, Wynnewood, Pennsylvania 19096, USA. ^[1] Cardiomyopathies and Arrhythmias Research Laboratory/Department, Federico Gómez Children's Hospital of Mexico, Mexico 06720, Mexico. ^[2] Molecular Genomics Laboratory/Department, Faculty of Medicine, Universidad Autónoma de Coahuila, Saltillo, Coahuila 25000, Mexico. ^[3] Therapeutic Innovation Program/Division, Center for Applied Medical Research, University of Navarra, Pamplona 31008, Spain. ^[4] Chemistry Department, University of Mary, Bismarck, North Dakota 58504, USA. ^[5] Chemistry Department, University of Massachusetts at Lowell, Lowell, Massachusetts, 01854, USA. ^[6] Molecular Genetics Department, Masonic Medical Research Institute, Utica, New York 13501, USA. ^[7] Molecular Genetics Department, Masonic Medical Research Institute, Utica, New York 13501, USA.;Department of Cardiology and Cardiovascular Research Institute, Renmin Hospital of Wuhan University, Wuhan, Hubei, China. ^[8] Cardiovascular Research Department, Lankenau Institute for Medical Research, Lankenau Hearth Institute, Wynnewood, Pennsylvania 19096, USA.;Department of Pharmacology and Physiology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. ^[9]

关键词 ACTC1 TTN dilated cardiomyopathy pathogenic variations sudden cardiac death

DOI 10.1155/crig/9517735

PMID 39759977

发布时间 2025-01-08

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