THE FREQUENCY OF MUTATIONS IN KNOWN CARDIOMYOPATHY GENES AMONG CHILDREN WITH HYPERTROPHIC CARDIOMYOPATHY: THE NATIONAL HEART, LUNG AND BLOOD INSTITUTE-FUNDED MULTICENTER PEDIATRIC CARDIOMYOPATHY REGISTRY STUDY

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY(2018)

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摘要
Hypertrophic cardiomyopathy (HCM) is a rare disease in children often caused by pathogenic variants in MYH7 or MYBPC3 genes.Exome sequencing was completed in 160 children with HCM. Genetic variants in 36 HCM genes were interpreted using American College of Medical Genetics guidelines. Individuals
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