Familial Hypertrophic Cardiomyopathy
What's New
Last Posted: Mar 16, 2023
- A Novel Loss-of-function Mutation in MYBPC3 Causes Familial Hypertrophic Cardiomyopathy with Extreme Intrafamilial Phenotypic Heterogeneity.
Y Peng et al. Balkan journal of medical genetics : BJMG 2023 25(1) 71-78 - Muscle LIM Protein Force-Sensing Mediates Sarcomeric Biomechanical Signaling in Human Familial Hypertrophic Cardiomyopathy.
Riaz Muhammad et al. Circulation 2022 - Angiotensinogen M235T polymorphism and susceptibility to hypertrophic cardiomyopathy in Asian population: A meta analysis.
Zhen Zhen et al. Journal of the renin-angiotensin-aldosterone system : JRAAS 21(4) 1470320320978100 - Genetic variant affecting the myosin light chain 2 related to familial hypertrophic cardiomyopathy.
Gil Wilmar Saldarriaga et al. Intractable & rare diseases research 2020 Nov 9(4) 229-232 - Familial Hypertrophic Cardiomyopathy: Late Potentials and Other Prognostic Markers.
Chaves-Markman Ândrea et al. Cureus 2020 Jan 12(1) e6530 - CLINGEN Actionability Report for Familial Hypertrophic Cardiomyopathy - ACTC1, CSRP3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1
ClinGen Actionability Working Group - Familial hypertrophic cardiomyopathy - Identification of cause and risk stratification through exome sequencing.
Biswas Amitabh et al. Gene 2018 Mar - Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy.
Zhou Nianwei et al. European journal of medical genetics 2018 Mar - Clinical and genetic diagnosis of familial hypertrophic cardiomyopathy: Results in pediatric cardiology.
Cardoso Bárbara et al. Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 2017 Feb - Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis.
Saghafi Hoorieh et al. Iranian journal of public health 2016 Mar 45(3) 329-339
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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