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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2013
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3695947/
https://ncbi.nlm.nih.gov/pubmed/23840593
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0067087
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