Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction
<b>Background:</b> The pleomorphic clinical presentation makes the diagnosis of desminopathy difficult. We aimed to describe the prevalence, phenotypic expression, and mitochondrial function of individuals with putative disease-causing desmin (DES) variants identified in patients with an...
Main Authors: | Miloš Kubánek, Tereza Schimerová, Lenka Piherová, Andreas Brodehl, Alice Krebsová, Sandra Ratnavadivel, Caroline Stanasiuk, Hana Hansíková, Jiří Zeman, Tomáš Paleček, Josef Houštěk, Zdeněk Drahota, Hana Nůsková, Jana Mikešová, Josef Zámečník, Milan Macek, Petr Ridzoň, Jana Malusková, Viktor Stránecký, Vojtěch Melenovský, Hendrik Milting, Stanislav Kmoch |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-03-01
|
Series: | Journal of Clinical Medicine |
Subjects: | |
Online Access: | https://www.mdpi.com/2077-0383/9/4/937 |
Similar Items
-
Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates
by: Anna Chaloupka, et al.
Published: (2019-12-01) -
Restrictive cardiomyopathy: difficulties desminopathy diagnostics
by: T. G. Vaikhanskaya, et al.
Published: (2019-11-01) -
Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (<i>DES</i>) Mutation p.Y122H Leading to a Severe Filament Assembly Defect
by: Andreas Brodehl, et al.
Published: (2019-11-01) -
Recurrent suspected myocarditis combined with infrahisian conduction disturbances revealing a desminopathy
by: Stéphane Boulé, MD, et al.
Published: (2015-09-01) -
Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome
by: Oday F. Salman, et al.
Published: (2018-06-01)