{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T22:15:14Z","timestamp":1790720114672,"version":"4.1.0"},"reference-count":42,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2020,3,29]],"date-time":"2020-03-29T00:00:00Z","timestamp":1585440000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["[MZ AZV 15-27682A]"],"award-info":[{"award-number":["[MZ AZV 15-27682A]"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["[MZ AZV 17-28784A]"],"award-info":[{"award-number":["[MZ AZV 17-28784A]"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["[NV19-08-00122]"],"award-info":[{"award-number":["[NV19-08-00122]"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["For the development of research organization 00023001 (IKEM, Prague, Czech Republic)"],"award-info":[{"award-number":["For the development of research organization 00023001 (IKEM, Prague, Czech Republic)"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The National Center for Medical Genomics (LM2015091)","award":["CZ.02.1.01\/0.0\/0.0\/16_013\/0001634"],"award-info":[{"award-number":["CZ.02.1.01\/0.0\/0.0\/16_013\/0001634"]}]},{"DOI":"10.13039\/501100005970","name":"Deutsche Stiftung f\u00fcr Herzforschung","doi-asserted-by":"publisher","award":["DSHF, F07\/17"],"award-info":[{"award-number":["DSHF, F07\/17"]}],"id":[{"id":"10.13039\/501100005970","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Deutsche Forschungsgesellschaft","award":["DFG, MI-1146\/2\u20102"],"award-info":[{"award-number":["DFG, MI-1146\/2\u20102"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>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 etiology of cardiomyopathy. Methods: A total of 327 Czech patients underwent whole exome sequencing and detailed phenotyping in probands harboring DES variants. Results: Rare, conserved, and possibly pathogenic DES variants were identified in six (1.8%) probands. Two DES variants previously classified as variants of uncertain significance (p.(K43E), p.(S57L)), one novel DES variant (p.(A210D)), and two known pathogenic DES variants (p.(R406W), p.(R454W)) were associated with characteristic desmin-immunoreactive aggregates in myocardial and\/or skeletal biopsy samples. The individual with the novel DES variant p.(Q364H) had a decreased myocardial expression of desmin with absent desmin aggregates in myocardial\/skeletal muscle biopsy and presented with familial left ventricular non-compaction cardiomyopathy (LVNC), a relatively novel phenotype associated with desminopathy. An assessment of the mitochondrial function in four probands heterozygous for a disease-causing DES variant confirmed a decreased metabolic capacity of mitochondrial respiratory chain complexes in myocardial\/skeletal muscle specimens, which was in case of myocardial succinate respiration more profound than in other cardiomyopathies. Conclusions: The presence of desminopathy should also be considered in individuals with LVNC, and in the differential diagnosis of mitochondrial diseases.<\/jats:p>","DOI":"10.3390\/jcm9040937","type":"journal-article","created":{"date-parts":[[2020,4,2]],"date-time":"2020-04-02T13:39:34Z","timestamp":1585834774000},"page":"937","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction"],"prefix":"10.3390","volume":"9","author":[{"given":"Milo\u0161","family":"Kub\u00e1nek","sequence":"first","affiliation":[{"name":"Department of Cardiology, Institute for Clinical and Experimental Medicine, 14021 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tereza","family":"Schimerov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Institute for Clinical and Experimental Medicine, 14021 Prague, Czech Republic"},{"name":"Institute of Physiology, First Faculty of Medicine, Charles University, 11636 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7917-6364","authenticated-orcid":false,"given":"Lenka","family":"Piherov\u00e1","sequence":"additional","affiliation":[{"name":"Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, 11636 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9202-2343","authenticated-orcid":false,"given":"Andreas","family":"Brodehl","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Krebsov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Institute for Clinical and Experimental Medicine, 14021 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Ratnavadivel","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4801-7990","authenticated-orcid":false,"given":"Caroline","family":"Stanasiuk","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2734-225X","authenticated-orcid":false,"given":"Hana","family":"Hans\u00edkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, 12108 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2678-7919","authenticated-orcid":false,"given":"Ji\u0159\u00ed","family":"Zeman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, 12108 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom\u00e1\u0161","family":"Pale\u010dek","sequence":"additional","affiliation":[{"name":"2nd Department of Medicine\u2013Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, 12108 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8413-4772","authenticated-orcid":false,"given":"Josef","family":"Hou\u0161t\u011bk","sequence":"additional","affiliation":[{"name":"Institute of Physiology, Czech Academy of Sciences, 11720 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zden\u011bk","family":"Drahota","sequence":"additional","affiliation":[{"name":"Institute of Physiology, Czech Academy of Sciences, 11720 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"N\u016fskov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Physiology, Czech Academy of Sciences, 11720 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Mike\u0161ov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Physiology, Czech Academy of Sciences, 11720 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef","family":"Z\u00e1me\u010dn\u00edk","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University, 11636 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Milan","family":"Macek","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University, 11636 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petr","family":"Ridzo\u0148","sequence":"additional","affiliation":[{"name":"Department of Neurology, Thomayer\u2019s Hospital, 14059 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Maluskov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pathology, Institute for Clinical and Experimental Medicine, 14021 Prague, Czech Republic; Institute for Clinical and Experimental Medicine, 14021 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viktor","family":"Str\u00e1neck\u00fd","sequence":"additional","affiliation":[{"name":"Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, 11636 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8921-7078","authenticated-orcid":false,"given":"Vojt\u011bch","family":"Melenovsk\u00fd","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Institute for Clinical and Experimental Medicine, 14021 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hendrik","family":"Milting","sequence":"additional","affiliation":[{"name":"Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, 32545 Bad Oeynhausen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislav","family":"Kmoch","sequence":"additional","affiliation":[{"name":"Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, 11636 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,3,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1111\/j.1399-0004.2010.01512.x","article-title":"Desmin-related myopathy","volume":"80","author":"Jongbloed","year":"2011","journal-title":"Clin. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1161\/01.CIR.100.5.461","article-title":"Desmin mutation responsible for idiopathic dilated cardiomyopathy","volume":"100","author":"Li","year":"1999","journal-title":"Circulation"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1161\/CIRCULATIONAHA.106.646778","article-title":"Prevalence of desmin mutations in dilated cardiomyopathy","volume":"115","author":"Taylor","year":"2007","journal-title":"Circulation"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/1300","article-title":"Missence mutations in desmin associated with familial cardiac and skeletal myopathy","volume":"19","author":"Goldfarb","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/S0735-1097(98)00026-6","article-title":"Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits","volume":"31","author":"Arbustini","year":"1998","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1056\/NEJM200003163421104","article-title":"Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene","volume":"342","author":"Park","year":"2000","journal-title":"N. Engl. J. Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.ijcard.2006.05.019","article-title":"Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation","volume":"117","author":"Pruszczyk","year":"2007","journal-title":"Int. J. Cardiol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/j.nmd.2007.02.009","article-title":"Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene","volume":"17","author":"Olive","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1016\/j.hrthm.2010.04.023","article-title":"Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks","volume":"7","author":"Otten","year":"2010","journal-title":"Heart Rhythm"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"4595","DOI":"10.1093\/hmg\/ddq387","article-title":"De novo desmin mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy","volume":"19","author":"Klauke","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.amjcard.2012.10.017","article-title":"Desmin mutations and arrhythmogenic right ventricular cardiomyopathy","volume":"111","author":"Lorenzon","year":"2013","journal-title":"Am. J. Cardiol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1016\/j.yexcr.2007.03.033","article-title":"Muscle intermediate filaments and their links to membranes and membranous organelles","volume":"313","author":"Capetanaki","year":"2007","journal-title":"Exp. Cell. Res."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1083\/jcb.150.6.1283","article-title":"Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function","volume":"150","author":"Milner","year":"2000","journal-title":"J. Cell. Biol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1007\/s00401-013-1113-x","article-title":"Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities","volume":"125","author":"Henderson","year":"2013","journal-title":"Acta Neuropathol. (Berl.)"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1007\/s00401-016-1592-7","article-title":"Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue","volume":"132","author":"Winter","year":"2016","journal-title":"Acta Neuropathol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"199","DOI":"10.3389\/fgene.2015.00199","article-title":"Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA","volume":"6","author":"McCormick","year":"2015","journal-title":"Front. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1161\/CIRCGENETICS.113.000245","article-title":"Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the Four-and-a-half LIM domain 1 gene","volume":"6","author":"Hartmannova","year":"2013","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1038\/gim.2016.190","article-title":"Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics","volume":"19","author":"Kalia","year":"2017","journal-title":"Genet. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.yjmcc.2015.12.015","article-title":"Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect","volume":"91","author":"Brodehl","year":"2016","journal-title":"J. Mol. Cell. Cardiol."},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Brodehl, A., Pour Hakimi, S.A., Stanasiuk, C., Ratnavadivel, S., Hendig, D., Gaertner, A., Gerull, B., Gummert, J., Paluszkiewicz, L., and Milting, H. (2019). Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect. Genes (Basel), 11.","DOI":"10.3390\/genes10110918"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.yjmcc.2019.03.014","article-title":"In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns","volume":"129","author":"Debus","year":"2019","journal-title":"J. Mol. Cell. Cardiol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1002\/humu.23248","article-title":"The novel \u03b1B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy","volume":"38","author":"Brodehl","year":"2017","journal-title":"Hum. Mutat."},{"key":"ref_23","unstructured":"Sheehan, D.C., and Hrapchak, B.B. (1987). Theory and Practice of Histotechnology, Mosby. [2nd ed.]."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/0003-9861(68)90561-4","article-title":"Biochemical studies of skeletal muscle mitochondria. I. Microanalysis of cytochrome content, oxidative and phosphorylative activities of mammalian skeletal muscle mitochondria","volume":"126","author":"Makinen","year":"1968","journal-title":"Arch. Biochem. Biophys."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1002\/ejhf.640","article-title":"Myocardial Iron Content and Mitochondrial Function in Heart Failure: Direct Tissue Analysis","volume":"19","author":"Melenovsky","year":"2017","journal-title":"Eur. J. Heart Fail."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1007\/s12551-018-0429-0","article-title":"Molecular insights into cardiomyopathies associated with desmin (DES) mutations","volume":"10","author":"Brodehl","year":"2018","journal-title":"Biophys. Rev."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"3705","DOI":"10.1242\/jcs.192203","article-title":"Desmin and \u03b1B-Crystallin Interplay in.Maintenance of Mitochondrial Homeostasis and Cardiomyocyte Survival","volume":"129","author":"Diokmetzidou","year":"2016","journal-title":"J. Cell Sci."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1002\/humu.20459","article-title":"Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies","volume":"28","author":"Goudeau","year":"2007","journal-title":"Hum. Mutat."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.ceb.2015.01.004","article-title":"Desmin related disease: A matter of cell survival failure","volume":"32","author":"Capetanaki","year":"2015","journal-title":"Curr. Opin. Cell Biol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.ijcard.2007.08.095","article-title":"Diversity of cardiomyopathy phenotypes caused by mutations in desmin","volume":"131","author":"Pruszczyk","year":"2008","journal-title":"Int. J. Cardiol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/s00401-012-1057-6","article-title":"Desminopathies: Pathology and mechanisms","volume":"125","author":"Clemen","year":"2013","journal-title":"Acta Neuropathol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.1161\/CIRCULATIONAHA.117.028719","article-title":"The Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy\/Dysplasia","volume":"137","author":"Carriel","year":"2018","journal-title":"Circulation"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmedgenet-2012-101487","article-title":"A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: Distinct histopathological outcomes compared with desminopathies","volume":"50","author":"Cetin","year":"2013","journal-title":"J. Med. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/j.jacc.2016.05.096","article-title":"Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?","volume":"68","author":"Arbustini","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.jacc.2017.12.019","article-title":"Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy","volume":"71","author":"Caliskan","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1002\/humu.23747","article-title":"Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect","volume":"40","author":"Marakhonov","year":"2019","journal-title":"Hum. Mutat."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"e001763","DOI":"10.1161\/CIRCGENETICS.117.001763","article-title":"Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients with Left Ventricular","volume":"10","author":"Jefferies","year":"2017","journal-title":"Noncompact. Circ. Cardiovasc. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1093\/hmg\/ddg060","article-title":"On noxious desmin: Functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria","volume":"12","author":"Goudeau","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/j.nmd.2016.08.004","article-title":"Mitochondrial dysfunction in myofibrillar myopathy","volume":"26","author":"Vincent","year":"2016","journal-title":"Neuromuscul. Disord."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.yjmcc.2018.10.017","article-title":"Amelioration of desmin network defects by \u03b1B-crystallin overexpression confers cardioprotection in a mouse model of dilated cardiomyopathy caused by LMNA gene mutation","volume":"125","author":"Galata","year":"2018","journal-title":"J. Mol. Cell. Cardiol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1007\/s12551-018-0443-2","article-title":"Intermediate filaments in cardiomyopathy","volume":"10","author":"Tsikitis","year":"2018","journal-title":"Bioph. Rev."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/j.cmet.2017.03.009","article-title":"The Enigma of the Respiratory Chain Supercomplex","volume":"25","author":"Milenkovic","year":"2017","journal-title":"Cell Metab."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/4\/937\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T09:13:09Z","timestamp":1760173989000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/4\/937"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,29]]},"references-count":42,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,4]]}},"alternative-id":["jcm9040937"],"URL":"https:\/\/doi.org\/10.3390\/jcm9040937","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,29]]}}}