Reported cases with ACTC1 gene mutations.
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In the first column (familial/sporadic), the number of reported cases is notified (for instance: 13x: 13 reported cases). In de novo mutations, the age at diagnosis is stated. Mutation: mutation description as reported in the original article; Columns “ENST00000290378, NM_005159.4”: current description at the protein and DNA levels of the same mutation as in the column “Mutation”. AF: Atrial Fibrillation, AR: Aortic Regurgitation, AS: Aortic Stenosis, ASD: Atrial Septal Defect, AV: Atrioventricular, CHF: Cardiac Heart Failure, DCM: Dilated Cardiomyopathy, HCM: Hypertrophic Cardiomyopathy, IAD: Implantable Automatic Defibrillator, LV: Left Ventricle, LVNC: Left Ventricular Non Compaction, mo: months old, MR: Mitral Regurgitation, PM: Pace Maker, PS: Pulmonary Stenosis, RCM: Restrictive Cardiomyopathy, SB: Sinus Bradycardia, SD: Sudden Death, VF: Ventricular Fibrillation, VSD: Ventricular Septal Defect, VT: Ventricular Tachycardia, WPW: Wolff Parkinson White, yo: years old.Reported cases with ACTC1 gene mutations.
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2015-12-03



