Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic C...
Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy
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Author / Creator
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 and Song, Lei
Publisher
United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
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.
A pedigree was identified with suspected autosomal recessive transmission of HC...
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Full title
Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy
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TN_cdi_plos_journals_1372350797
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1372350797
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0067087