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

  1. 1.
    SYSNO0524742
    TitleDesminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction
    Author(s) Kubánek, M. (CZ)
    Schimerová, T. (CZ)
    Piherová, L. (CZ)
    Brodehl, A. (DE)
    Krebsová, A. (CZ)
    Ratnavadivel, S. (DE)
    Stanasiuk, C. (DE)
    Hansíková, H. (CZ)
    Zeman, J. (CZ)
    Paleček, T. (CZ)
    Houštěk, Josef (FGU-C) RID, ORCID
    Drahota, Zdeněk (FGU-C) RID, ORCID
    Nůsková, Hana (FGU-C) RID, ORCID
    Mikešová, Jana (FGU-C) RID, ORCID
    Zámečník, J. (CZ)
    Macek Jr., M. (CZ)
    Ridzoň, P. (CZ)
    Malusková, J. (CZ)
    Stránecký, V. (CZ)
    Melenovský, V. (CZ)
    Milting, H. (DE)
    Kmoch, S. (CZ)
    Source Title Journal of Clinical Medicine. Roč. 9, č. 4 (2020). - : MDPI
    Article number937
    Document TypeČlánek v odborném periodiku
    Grant NV17-28784A GA MZd - Ministry of Health (MZ), CZ - Czech Republic
    Institutional supportFGU-C - RVO:67985823
    Languageeng
    CountryCH
    Keywords desmin * dilated cardiomyopathy * mitochondrial dysfunction * myopathy * non-ischemic cardiomyopathy * whole exome sequencing
    Cooperating institutions Institut klinické a experimentální medicíny (Czech Republic)
    Univerzita Karlova v Praze, 1. lékařská fakulta (Czech Republic)
    Všeobecná fakultní nemocnice v Praze (Czech Republic)
    Univerzita Karlova v Praze, 2. lékařská fakulta (Czech Republic)
    Thomayerova nemocnice (Czech Republic)
    URLhttps://www.mdpi.com/2077-0383/9/4/937
    Permanent Linkhttp://hdl.handle.net/11104/0309045
     
Number of the records: 1  

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