Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know.
Sign Up to like & getrecommendations! Published in 2021 at "European heart journal"
DOI: 10.1093/eurheartj/ehab286
Abstract: There is increasing understanding of the genetic basis to dilated cardiomyopathy and in this review, we offer a practical primer for the practising clinician. We aim to help all clinicians involved in the care of… read more here.
Keywords: adult onset; understanding genetics; genetics; genetics adult ... See more keywords
Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14030748
Abstract: The TNNI3 gene encodes for the cardiac isoform of troponin I, a pivotal component of the sarcomeric structure of the myocardium. While heterozygous TNNI3 missense mutations have long been associated with autosomal dominant hypertrophic and… read more here.
Keywords: tnni3 mutations; tnni3; early onset; onset dilated ... See more keywords
Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates.
Sign Up to like & getrecommendations! Published in 2018 at "Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia"
DOI: 10.5507/bp.2018.054
Abstract: AIMS Recent-onset dilated cardiomyopathy (RODCM) is a disease of heterogeneous aetiology and clinical outcome. In this pilot study, we aimed to assess its genetic architecture and correlate genotype with left ventricular reverse remodelling (LVRR). PATIENTS… read more here.
Keywords: exome sequencing; genetic architecture; whole exome; onset dilated ... See more keywords