**5. Conclusions**

Desminopathy is a rare cause of cardiomyopathy and/or skeletal muscle myopathy with a pleomorphic clinical presentation and poor prognosis. This diagnosis should also be considered in individuals with LVNC. Differential diagnosis also includes mitochondrial and inflammatory myocardial diseases.

**Supplementary Materials:** The following are available online at http://www.mdpi.com/2077-0383/9/4/937/s1, Table S1 Primers for PCR Amplification of DES for segregation analysis in families, Table S2 Main clinical characteristics of probands, Table S3 Additional clinical, electrocardiographic, laboratory and echocardiographic data of probands, Table S4 Rare variants of non-desmin genes in probands, frequency in Exac database less than 0.00001.

**Author Contributions:** Conceptualization, M.K., T.S., L.P., A.K., V.M., and S.K., Methodology, M.K., T.S., L.P., V.M., H.M., and S.K., Validation, M.K. and S.K.; Formal Analysis, M.K., T.S., L.P., and S.K.; Investigation, clinical assessment M.K., A.K., T.P., and P.R., Molecular-genetic analysis T.S., L.P., M.M., and V.S., iPSC differentiation, cloning, transfection, confocal microscopy A.B., Quantitative analysis of aggregate formation S.R., site directed mutagenesis C.S., analysis of mitochondrial function H.H., J.Z., J.H., Z.D., H.N., and J.M. (Jana Mikešová), histopathology and electron microscopy J.Z. and J.M. (Malusková); Resources, H.M., S.K.; Data Curation, M.K., T.S., and L.P.; Writing–Original Draft Preparation, M.K., T.S., L.P., and J.H.; Writing–Review & Editing, M.K., A.B., J.H., M.M., and S.K.; Visualization, T.S., L.P., and A.B.; Supervision, M.K., J.H., V.M, H.M., and S.K.; Project Administration, M.K. and T.S.; Funding Acquisition, H.M., M.K., and S.K. All authors have read and agreed to the published version of the manuscript.

**Acknowledgments:** M.K., T.S., and L.P. contributed equally to the manuscript. This study was supported by the research grant of the Ministry of Health, Czech Republic [MZ AZV 15-27682A], [NV19-08-00122], [MZ AZV 17-28784A], Ministry of Health, Czech Republic - conceptual development of research organization ("Institute for Clinical and Experimental Medicine – IKEM, IN 00023001") and by institutional support from the Ministry of Health (RVO-VFN64165) and Czech Academy of Sciences (RVO:67985823). We thank the National Center for Medical Genomics (LM2015091) for exome sequencing and providing ethnically matched population frequency data (project CZ.02.1.01/0.0/0.0/16\_013/0001634). A.B. and H.M. are thankful for financial support by Deutsche Stiftung für Herzforschung (DSHF, F07/17) and by Deutsche Forschungsgesellschaft (DFG, MI-1146/2–2).

**Conflicts of Interest:** The authors have no conflicts of interest.
