Article
Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.
Human molecular genetics - 1 Apr 2013
Tse Hung-Fat, Ho Jenny C Y, Choi Shing-Wan, Lee Yee-Ki, Butler Amy W, Ng Kwong-Man, Siu Chung-Wah, Simpson Michael A, Lai Wing-Hon, Chan Yau-Chi, Au Ka-Wing, Zhang Jinqiu, Lay Kenneth W J, Esteban Miguel A, Nicholls John M, Colman Alan, Sham Pak C
Abstract excerpt
In this paper, we report a novel heterozygous mutation of A285V codon conversion on exon 4 of the desmin (DES), using whole exome sequencing (WES) in an isolated proband with documented dilated cardiomyopathy (DCM). This mutation is predicted to cause three-dimensional structure changes of DES. Immunohistological and electron microscopy studies demonstrated diffuse abnormal DES aggregations in...
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