A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation

Background: Laminopathies caused by LMNA gene mutations are characterized by different clinical manifestations. Among them, cardiac involvement is one of the most severe phenotypes. Case presentation: A 30-year-old man visited the hospital because of palpitations, shortness of breath, and fatigue. H...

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Bibliographic Details
Main Authors:	Duan, J. (Author), Li, S. (Author), Pi, X. (Author), Tao, J. (Author), Wang, H. (Author)
Format:	Article
Language:	English
Published:	John Wiley and Sons Inc 2021
Subjects:	adult Adult aorta anomaly aortic regurgitation aortic valve Aortic Valve aortic valve malformation Article atrioventricular block Base Sequence brain natriuretic peptide cardiac conduction defect cardiac troponin 1 CLIA cardiomegaly cardiomyopathy cardiotonic agent cardiovascular magnetic resonance cardiovascular malformation case report chromosome identification clinical article congestive cardiomyopathy creatine kinase diagnostic imaging dilated cardiomyopathy disease severity diuretic agent dysphagia dyspnea electrocardiogram Emery Dreifuss muscular dystrophy Emery–Dreifuss muscular dystrophy fatigue gait disorder gene gene mutation genetic analysis genetic screening genetic variability genetics genomic DNA heart arrhythmia heart dilatation heart edema heart failure heart left ventricle function heart muscle fibrosis heart palpitation Holter monitoring hospital admission hospital discharge hospitalization human Humans informed consent joint contracture lamin A Lamin Type A Laminopathies laminopathy LMNA gene LMNA mutation LMNA protein, human Magnetic Resonance Imaging male Male missense mutation muscle weakness muscular dystrophy mutation Mutation nuclear magnetic resonance imaging nucleotide sequence nutrition supplement pathophysiology physical examination progressive cardiac conduction defect RNA splicing scoliosis systolic heart murmur troponin I underweight Ventricular Function, Left
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A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation

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