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

Background: 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 etiolo...

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Detalles Bibliográficos
Autores principales:	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, Milan, Ridzoň, Petr, Malusková, Jana, Stránecký, Viktor, Melenovský, Vojtěch, Milting, Hendrik, Kmoch, Stanislav
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231262/ https://www.ncbi.nlm.nih.gov/pubmed/32235386 http://dx.doi.org/10.3390/jcm9040937

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