Differential diagnosis of PRKAG2 Cardiac syndrome in hypertrophic cardiomyopathy patients of han nationality
Objectives: This study aimed to diversify the spectrum of PRKAG2 variants and explore its clinical features in a Chinese Han population with hypertrophic cardiomyopathy (HCM). Methods: Whole-exome sequencing was performed on 200 patients diagnosed with HCM, and four causative PRKAG2 variants were id...
Päätekijät: | Xue-Jie Li, Nian-Wei Zhou, Hui-Lin Xie, Wen Liu, Cui-Zhen Pan, Xian-Hong Shu |
---|---|
Aineistotyyppi: | Artikkeli |
Kieli: | English |
Julkaistu: |
Wolters Kluwer Health/LWW
2021-01-01
|
Sarja: | Cardiology Plus |
Aiheet: | |
Linkit: | http://www.cardiologyplus.org/article.asp?issn=2470-7511;year=2021;volume=6;issue=2;spage=132;epage=140;aulast=Li |
Samankaltaisia teoksia
-
Echocardiographic characteristics of PRKAG2 syndrome: a research using three-dimensional speckle tracking echocardiography compared with sarcomeric hypertrophic cardiomyopathy
Tekijä: Lu Tang, et al.
Julkaistu: (2022-05-01) -
Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants
Tekijä: Amit Manhas, et al.
Julkaistu: (2022-05-01) -
PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis
Tekijä: Varun Aggarwal, et al.
Julkaistu: (2015-01-01) -
Cardiac manifestations of PRKAG2 mutation
Tekijä: Pooya Banankhah, et al.
Julkaistu: (2018-01-01) -
Intrafamilial Phenotypical Variability Linked to PRKAG2 Mutation—Family Case Report and Review of the Literature
Tekijä: Andreea Sorina Marcu, et al.
Julkaistu: (2022-12-01)