Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mit...
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction
About this item
Full title
Author / Creator
Kubánek, Miloš , Schimerová, Tereza , Piherová, Lenka , Brodehl, Andreas , Krebsová, Alice , Ratnavadivel, Sandra , Stanasiuk, Caroline , Hansíková, Hana , Zeman, Jiří , Paleček, Tomáš , Houštěk, Josef , Drahota, Zdeněk , Nůsková, Hana , Mikešová, Jana , Zámečník, Josef , Macek, Jr, Milan , Ridzoň, Petr , Malusková, Jana , Stránecký, Viktor , Melenovský, Vojtěch , Milting, Hendrik and Kmoch, Stanislav
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
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 unexplained etiology of cardiomyopathy.
A total of 327 Czech patients underwe...
Alternative Titles
Full title
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction
Authors, Artists and Contributors
Author / Creator
Schimerová, Tereza
Piherová, Lenka
Brodehl, Andreas
Krebsová, Alice
Ratnavadivel, Sandra
Stanasiuk, Caroline
Hansíková, Hana
Zeman, Jiří
Paleček, Tomáš
Houštěk, Josef
Drahota, Zdeněk
Nůsková, Hana
Mikešová, Jana
Zámečník, Josef
Macek, Jr, Milan
Ridzoň, Petr
Malusková, Jana
Stránecký, Viktor
Melenovský, Vojtěch
Milting, Hendrik
Kmoch, Stanislav
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7231262
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7231262
Other Identifiers
ISSN
2077-0383
E-ISSN
2077-0383
DOI
10.3390/jcm9040937
