Article
Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
PloS one - 1 Jan 2013
Wang Yilu, Wang Zhimin, Yang Qi, Zou Yubao, Zhang Hongju, Yan Chaowu, Feng Xinxing, Chen Yi, Zhang Yin, Wang Jizheng, Zhou Xianliang, Ahmad Ferhaan, Hui Rutai, Song Lei
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) due to mutations in genes encoding sarcomere proteins is most commonly inherited as an autosomal dominant trait. Since nearly 50% of HCM cases occur in the absence of a family history, a recessive inheritance pattern may be involved. METHODS: A pedigree was identified with suspected autosomal recessive transmission of HCM. Twenty-six HCM-related genes were...
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