Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction

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...

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Bibliographic Details
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:
desmin
dilated cardiomyopathy
mitochondrial dysfunction
myopathy
non-ischemic cardiomyopathy
whole exome sequencing
Online Access:https://www.mdpi.com/2077-0383/9/4/937

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https://www.mdpi.com/2077-0383/9/4/937

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