Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

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...

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Main Authors: Yilu Wang, Zhimin Wang, Qi Yang, Yubao Zou, Hongju Zhang, Chaowu Yan, Xinxing Feng, Yi Chen, Yin Zhang, Jizheng Wang, Xianliang Zhou, Ferhaan Ahmad, Rutai Hui, Lei Song
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3695947?pdf=render