{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T07:28:35Z","timestamp":1790148515829,"version":"4.0.1"},"reference-count":84,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2021,3,12]],"date-time":"2021-03-12T00:00:00Z","timestamp":1615507200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,3,12]],"date-time":"2021-03-12T00:00:00Z","timestamp":1615507200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100010275","name":"Deutsche Gesellschaft f\u00fcr Muskelkranke","doi-asserted-by":"publisher","award":["Sc22\/11"],"award-info":[{"award-number":["Sc22\/11"]}],"id":[{"id":"10.13039\/501100010275","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["FOR2473"],"award-info":[{"award-number":["FOR2473"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Muscle Res Cell Motil"],"published-print":{"date-parts":[[2021,6]]},"DOI":"10.1007\/s10974-021-09601-1","type":"journal-article","created":{"date-parts":[[2021,3,12]],"date-time":"2021-03-12T14:02:41Z","timestamp":1615557761000},"page":"381-397","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The p.Ala2430Val mutation in filamin C causes a \"hypertrophic myofibrillar cardiomyopathy\""],"prefix":"10.1007","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2014-2028","authenticated-orcid":false,"given":"Anne","family":"Sch\u00e4nzer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Schumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Zengeler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisann","family":"Gulatz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Maroli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Ahting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anke","family":"Sprengel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Gr\u00e4f","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Jux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Till","family":"Acker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter O.","family":"F\u00fcrst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Rupp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Schuld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter F. M.","family":"van der Ven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,3,12]]},"reference":[{"key":"9601_CR1","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1111\/cge.13594","volume":"96","author":"F Ader","year":"2019","unstructured":"Ader F et al (2019) FLNC pathogenic variants in patients with cardiomyopathies: prevalence and genotype-phenotype correlations. Clin Genet 96:317\u2013329. https:\/\/doi.org\/10.1111\/cge.13594","journal-title":"Clin Genet"},{"key":"9601_CR2","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/j.cub.2009.11.022","volume":"20","author":"V Arndt","year":"2010","unstructured":"Arndt V et al (2010) Chaperone-assisted selective autophagy is essential for muscle maintenance. Curr Biol 20:143\u2013148. https:\/\/doi.org\/10.1016\/j.cub.2009.11.022","journal-title":"Curr Biol"},{"key":"9601_CR3","doi-asserted-by":"publisher","first-page":"1856","DOI":"10.1016\/j.yexcr.2010.02.027","volume":"316","author":"J Baker","year":"2010","unstructured":"Baker J et al (2010) Identification of a Z-band associated protein complex involving KY, FLNC and IGFN1. Exp Cell Res 316:1856\u20131870. https:\/\/doi.org\/10.1016\/j.yexcr.2010.02.027","journal-title":"Exp Cell Res"},{"key":"9601_CR4","doi-asserted-by":"publisher","first-page":"2863","DOI":"10.1093\/hmg\/ddh308","volume":"13","author":"J Beatham","year":"2004","unstructured":"Beatham J, Romero R, Townsend SK, Hacker T, van der Ven PF, Blanco G (2004) Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres. Hum Mol Genet 13:2863\u20132874. https:\/\/doi.org\/10.1093\/hmg\/ddh308","journal-title":"Hum Mol Genet"},{"key":"9601_CR5","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1016\/j.jacbts.2016.05.004","volume":"1","author":"RL Begay","year":"2016","unstructured":"Begay RL et al (2016) FLNC gene splice mutations cause dilated cardiomyopathy. JACC Basic Transl Sci 1:344\u2013359. https:\/\/doi.org\/10.1016\/j.jacbts.2016.05.004","journal-title":"JACC Basic Transl Sci"},{"key":"9601_CR6","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1161\/circgenetics.113.000103","volume":"6","author":"A Brodehl","year":"2013","unstructured":"Brodehl A et al (2013) The novel desmin mutant p. A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death. Circ Cardiovasc Genet 6:615\u2013623. https:\/\/doi.org\/10.1161\/circgenetics.113.000103","journal-title":"Circ Cardiovasc Genet"},{"key":"9601_CR7","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1002\/humu.22942","volume":"37","author":"A Brodehl","year":"2016","unstructured":"Brodehl A et al (2016) Mutations in FLNC are associated with familial restrictive cardiomyopathy. Hum Mutat 37:269\u2013279. https:\/\/doi.org\/10.1002\/humu.22942","journal-title":"Hum Mutat"},{"key":"9601_CR8","doi-asserted-by":"publisher","DOI":"10.1161\/circgenetics.117.001959","author":"A Brodehl","year":"2017","unstructured":"Brodehl A, Gaertner-Rommel A, Milting H (2017) FLNC (filamin-C): a new(er) player in the field of genetic cardiomyopathies. Circ Cardiovasc Genet. https:\/\/doi.org\/10.1161\/circgenetics.117.001959","journal-title":"Circ Cardiovasc Genet"},{"key":"9601_CR9","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1007\/s12192-017-0787-8","volume":"22","author":"S Carra","year":"2017","unstructured":"Carra S et al (2017) The growing world of small heat shock proteins: from structure to functions. Cell Stress Chaperones 22:601\u2013611. https:\/\/doi.org\/10.1007\/s12192-017-0787-8","journal-title":"Cell Stress Chaperones"},{"key":"9601_CR10","doi-asserted-by":"publisher","first-page":"9035","DOI":"10.1073\/pnas.0914013107","volume":"107","author":"Y Chen","year":"2010","unstructured":"Chen Y, Lewis W, Diwan A, Cheng EH, Matkovich SJ, Dorn GW 2nd (2010) Dual autonomous mitochondrial cell death pathways are activated by Nix\/BNip3L and induce cardiomyopathy. Proc Natl Acad Sci USA 107:9035\u20139042. https:\/\/doi.org\/10.1073\/pnas.0914013107","journal-title":"Proc Natl Acad Sci USA"},{"key":"9601_CR11","doi-asserted-by":"publisher","first-page":"7207","DOI":"10.1093\/hmg\/ddv421","volume":"24","author":"F Chevessier","year":"2015","unstructured":"Chevessier F et al (2015) Myofibrillar instability exacerbated by acute exercise in filaminopathy. Hum Mol Genet 24:7207\u20137220. https:\/\/doi.org\/10.1093\/hmg\/ddv421","journal-title":"Hum Mol Genet"},{"key":"9601_CR12","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1016\/j.nmd.2008.06.367","volume":"18","author":"KG Claeys","year":"2008","unstructured":"Claeys KG et al (2008) Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. Neuromuscul Disord 18:656\u2013666. https:\/\/doi.org\/10.1016\/j.nmd.2008.06.367","journal-title":"Neuromuscul Disord"},{"key":"9601_CR13","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1007\/s00401-008-0479-7","volume":"117","author":"KG Claeys","year":"2009","unstructured":"Claeys KG et al (2009) Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. Acta Neuropathol 117:293\u2013307. https:\/\/doi.org\/10.1007\/s00401-008-0479-7","journal-title":"Acta Neuropathol"},{"key":"9601_CR14","doi-asserted-by":"publisher","first-page":"1104","DOI":"10.1002\/mgg3.488","volume":"6","author":"H Cui","year":"2018","unstructured":"Cui H et al (2018) Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy. Mol Genet Genomic Med 6:1104\u20131113. https:\/\/doi.org\/10.1002\/mgg3.488","journal-title":"Mol Genet Genomic Med"},{"key":"9601_CR15","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1016\/j.ajhg.2011.04.021","volume":"88","author":"RM Duff","year":"2011","unstructured":"Duff RM et al (2011) Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet 88:729\u2013740. https:\/\/doi.org\/10.1016\/j.ajhg.2011.04.021","journal-title":"Am J Hum Genet"},{"key":"9601_CR16","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1007\/s10974-017-9487-3","volume":"38","author":"Ehsan M, Jiang H, Thomson KL, Gehmlich K","year":"2017","unstructured":"Ehsan M, Jiang H, Thomson KL, Gehmlich K (2017) When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies. J Muscle Res Cell Motil 38:303\u2013316. https:\/\/doi.org\/10.1007\/s10974-017-9487-3","journal-title":"J Muscle Res Cell Motil"},{"key":"9601_CR17","doi-asserted-by":"publisher","first-page":"3215","DOI":"10.1091\/mbc.E13-04-0202","volume":"24","author":"S Eulitz","year":"2013","unstructured":"Eulitz S et al (2013) Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling. Exp Cell Res 24:3215\u20133226. https:\/\/doi.org\/10.1091\/mbc.E13-04-0202","journal-title":"Exp Cell Res"},{"key":"9601_CR18","doi-asserted-by":"publisher","first-page":"4219","DOI":"10.1111\/j.1582-4934.2008.00438.x","volume":"13","author":"LM Fidler","year":"2009","unstructured":"Fidler LM, Wilson GJ, Liu F, Cui X, Scherer SW, Taylor GP, Hamilton RM (2009) Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations. J Cell Mol Med 13:4219\u20134228. https:\/\/doi.org\/10.1111\/j.1582-4934.2008.00438.x","journal-title":"J Cell Mol Med"},{"key":"9601_CR19","doi-asserted-by":"publisher","first-page":"1130","DOI":"10.1161\/circulationaha.110.950089","volume":"122","author":"T Force","year":"2010","unstructured":"Force T et al (2010) Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute. Circulation 122:1130\u20131133. https:\/\/doi.org\/10.1161\/circulationaha.110.950089","journal-title":"Circulation"},{"key":"9601_CR20","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.ydbio.2011.10.008","volume":"361","author":"M Fujita","year":"2012","unstructured":"Fujita M et al (2012) Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro. Dev Biol 361:79\u201389. https:\/\/doi.org\/10.1016\/j.ydbio.2011.10.008","journal-title":"Dev Biol"},{"key":"9601_CR21","doi-asserted-by":"publisher","first-page":"1563","DOI":"10.1083\/jcb.106.5.1563","volume":"106","author":"DO F\u00fcrst","year":"1988","unstructured":"F\u00fcrst DO, Osborn M, Nave R, Weber K (1988) The organization of titin filaments in the half-sarcomere revealed by monoclonal antibodies in immunoelectron microscopy: a map of ten nonrepetitive epitopes starting at the Z line extends close to the M line. J Cell Biol 106:1563\u20131572. https:\/\/doi.org\/10.1083\/jcb.106.5.1563","journal-title":"J Cell Biol"},{"key":"9601_CR22","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1007\/s00401-012-1054-9","volume":"125","author":"DO F\u00fcrst","year":"2013","unstructured":"F\u00fcrst DO, Goldfarb LG, Kley RA, Vorgerd M, Olive M, van der Ven PF (2013) Filamin C-related myopathies: pathology and mechanisms. Acta Neuropathol 125:33\u201346. https:\/\/doi.org\/10.1007\/s00401-012-1054-9","journal-title":"Acta Neuropathol"},{"key":"9601_CR23","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.jns.2019.01.019","volume":"398","author":"C Gemelli","year":"2019","unstructured":"Gemelli C et al (2019) A novel mutation in the N-terminal acting-binding domain of filamin C protein causing a distal myofibrillar myopathy. J Neurol Sci 398:75\u201378. https:\/\/doi.org\/10.1016\/j.jns.2019.01.019","journal-title":"J Neurol Sci"},{"key":"9601_CR24","doi-asserted-by":"publisher","first-page":"7658","DOI":"10.1038\/s41598-019-44139-w","volume":"9","author":"F Ghasemi Tahrir","year":"2019","unstructured":"Ghasemi Tahrir F, Gupta M, Myers V, Gordon J, Cheung JY, Feldman AM, Khalili K (2019) Role of Bcl2-associated athanogene 3 in turnover of gap junction protein, connexin 43, in neonatal cardiomyocytes. Sci Rep 9:7658. https:\/\/doi.org\/10.1038\/s41598-019-44139-w","journal-title":"Sci Rep"},{"key":"9601_CR25","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1007\/s00418-004-0711-z","volume":"122","author":"N Golenhofen","year":"2004","unstructured":"Golenhofen N, Perng MD, Quinlan RA, Drenckhahn D (2004) Comparison of the small heat shock proteins alphaB-crystallin, MKBP, HSP25, HSP20, and cvHSP in heart and skeletal muscle. Histochem Cell Biol 122:415\u2013425. https:\/\/doi.org\/10.1007\/s00418-004-0711-z","journal-title":"Histochem Cell Biol"},{"key":"9601_CR26","doi-asserted-by":"publisher","DOI":"10.1161\/circgenetics.116.001584","author":"J G\u00f3mez","year":"2017","unstructured":"G\u00f3mez J et al (2017) Screening of the filamin C gene in a large cohort of hypertrophic cardiomyopathy patients. Circ Cardiovasc Genet. https:\/\/doi.org\/10.1161\/circgenetics.116.001584","journal-title":"Circ Cardiovasc Genet"},{"key":"9601_CR27","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1016\/j.ijcard.2019.09.048","volume":"307","author":"CL Hall","year":"2020","unstructured":"Hall CL et al (2020) Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype. Int J Cardiol 307:101\u2013108. https:\/\/doi.org\/10.1016\/j.ijcard.2019.09.048","journal-title":"Int J Cardiol"},{"key":"9601_CR28","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1111\/j.1365-2559.2004.01835.x","volume":"44","author":"SE Hughes","year":"2004","unstructured":"Hughes SE (2004) The pathology of hypertrophic cardiomyopathy. Histopathology 44:412\u2013427. https:\/\/doi.org\/10.1111\/j.1365-2559.2004.01835.x","journal-title":"Histopathology"},{"key":"9601_CR29","doi-asserted-by":"publisher","first-page":"1661","DOI":"10.1242\/jcs.179887","volume":"129","author":"LY Juo","year":"2016","unstructured":"Juo LY, Liao WC, Shih YL, Yang BY, Liu AB, Yan YT (2016) HSPB7 interacts with dimerized FLNC and its absence results in progressive myopathy in skeletal muscles. J Cell Sci 129:1661\u20131670. https:\/\/doi.org\/10.1242\/jcs.179887","journal-title":"J Cell Sci"},{"key":"9601_CR30","doi-asserted-by":"publisher","first-page":"2577","DOI":"10.1002\/bip.360221211","volume":"22","author":"W Kabsch","year":"1983","unstructured":"Kabsch W, Sander C (1983) Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features. Biopolymers 22:2577\u20132637. https:\/\/doi.org\/10.1002\/bip.360221211","journal-title":"Biopolymers"},{"key":"9601_CR31","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1097\/hco.0000000000000509","volume":"33","author":"J Karmouch","year":"2018","unstructured":"Karmouch J, Protonotarios A, Syrris P (2018) Genetic basis of arrhythmogenic cardiomyopathy. Curr Opin Cardiol 33:276\u2013281. https:\/\/doi.org\/10.1097\/hco.0000000000000509","journal-title":"Curr Opin Cardiol"},{"key":"9601_CR32","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/j.yexcr.2016.09.008","volume":"348","author":"S Kebir","year":"2016","unstructured":"Kebir S et al (2016) Sarcomeric lesions and remodeling proximal to intercalated disks in overload-induced cardiac hypertrophy. Exp Cell Res 348:95\u2013105. https:\/\/doi.org\/10.1016\/j.yexcr.2016.09.008","journal-title":"Exp Cell Res"},{"key":"9601_CR33","doi-asserted-by":"publisher","first-page":"1161","DOI":"10.1002\/humu.23559","volume":"39","author":"A Kiselev","year":"2018","unstructured":"Kiselev A et al (2018) De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. Hum Mutat 39:1161\u20131172. https:\/\/doi.org\/10.1002\/humu.23559","journal-title":"Hum Mutat"},{"key":"9601_CR34","doi-asserted-by":"publisher","first-page":"3250","DOI":"10.1093\/brain\/awm271","volume":"130","author":"RA Kley","year":"2007","unstructured":"Kley RA et al (2007) Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain 130:3250\u20133264. https:\/\/doi.org\/10.1093\/brain\/awm271","journal-title":"Brain"},{"key":"9601_CR35","doi-asserted-by":"publisher","first-page":"2642","DOI":"10.1093\/brain\/aws200","volume":"135","author":"RA Kley","year":"2012","unstructured":"Kley RA et al (2012) Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. Brain 135:2642\u20132660. https:\/\/doi.org\/10.1093\/brain\/aws200","journal-title":"Brain"},{"key":"9601_CR36","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1074\/mcp.M112.023176","volume":"12","author":"RA Kley","year":"2013","unstructured":"Kley RA et al (2013a) A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients. Mol Cell Proteomics 12:215\u2013227. https:\/\/doi.org\/10.1074\/mcp.M112.023176","journal-title":"Mol Cell Proteomics"},{"key":"9601_CR37","doi-asserted-by":"publisher","first-page":"422","DOI":"10.4161\/auto.22921","volume":"9","author":"RA Kley","year":"2013","unstructured":"Kley RA, van der Ven PF, Oliv\u00e9 M, H\u00f6hfeld J, Goldfarb LG, F\u00fcrst DO, Vorgerd M (2013b) Impairment of protein degradation in myofibrillar myopathy caused by FLNC\/filamin C mutations. Autophagy 9:422\u2013423. https:\/\/doi.org\/10.4161\/auto.22921","journal-title":"Autophagy"},{"key":"9601_CR38","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1097\/wco.0000000000000357","volume":"29","author":"RA Kley","year":"2016","unstructured":"Kley RA, Oliv\u00e9 M, Schr\u00f6der R (2016) New aspects of myofibrillar myopathies. Curr Opin Neurol 29:628\u2013634. https:\/\/doi.org\/10.1097\/wco.0000000000000357","journal-title":"Curr Opin Neurol"},{"key":"9601_CR39","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1007\/978-3-642-66772-5_7","volume-title":"Cardiomyopathy and myocardial biopsy","author":"B Kunkel","year":"1978","unstructured":"Kunkel B, Lapp H, Kober G, Kaltenbach M (1978) Light-microscopic evaluation of myocardial biopsies. Cardiomyopathy and myocardial biopsy. Springer, Berlin, Heidelberg, pp 62\u201370"},{"key":"9601_CR40","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1016\/j.jmb.2006.07.077","volume":"362","author":"S Labeit","year":"2006","unstructured":"Labeit S et al (2006) Expression of distinct classes of titin isoforms in striated and smooth muscles by alternative splicing, and their conserved interaction with filamins. J Mol Biol 362:664\u2013681. https:\/\/doi.org\/10.1016\/j.jmb.2006.07.077","journal-title":"J Mol Biol"},{"key":"9601_CR41","doi-asserted-by":"publisher","first-page":"2776","DOI":"10.1093\/hmg\/ddw135","volume":"25","author":"Y Leber","year":"2016","unstructured":"Leber Y et al (2016) Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage. Hum Mol Genet 25:2776\u20132788. https:\/\/doi.org\/10.1093\/hmg\/ddw135","journal-title":"Hum Mol Genet"},{"key":"9601_CR42","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.cell.2007.12.018","volume":"132","author":"B Levine","year":"2008","unstructured":"Levine B, Kroemer G (2008) Autophagy in the pathogenesis of disease. Cell 132:27\u201342. https:\/\/doi.org\/10.1016\/j.cell.2007.12.018","journal-title":"Cell"},{"key":"9601_CR43","doi-asserted-by":"publisher","first-page":"1889","DOI":"10.1016\/s0140-6736(13)61685-2","volume":"382","author":"SE Lipshultz","year":"2013","unstructured":"Lipshultz SE et al (2013) Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry. Lancet 382:1889\u20131897. https:\/\/doi.org\/10.1016\/s0140-6736(13)61685-2","journal-title":"Lancet"},{"issue":"1","key":"9601_CR44","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1161\/cir.0000000000000682","volume":"140","author":"SE Lipshultz","year":"2019","unstructured":"Lipshultz SE et al (2019) Cardiomyopathy in children: classification and diagnosis: a scientific statement from the American Heart Association. Circulation 140(1):29-e68. https:\/\/doi.org\/10.1161\/cir.0000000000000682","journal-title":"Circulation"},{"key":"9601_CR45","doi-asserted-by":"publisher","first-page":"2169","DOI":"10.1242\/jcs.00425","volume":"116","author":"S Lu","year":"2003","unstructured":"Lu S, Carroll SL, Herrera AH, Ozanne B, Horowits R (2003) New N-RAP-binding partners alpha-actinin, filamin and Krp1 detected by yeast two-hybrid screening: implications for myofibril assembly. J Cell Sci 116:2169\u20132178. https:\/\/doi.org\/10.1242\/jcs.00425","journal-title":"J Cell Sci"},{"issue":"8","key":"9601_CR46","doi-asserted-by":"publisher","first-page":"2696","DOI":"10.3390\/ijms21082696","volume":"21","author":"Z Mao","year":"2020","unstructured":"Mao Z, Nakamura F (2020) Structure and function of filamin C in the muscle Z-disc. Int J Mol Sci 21(8):2696. https:\/\/doi.org\/10.3390\/ijms21082696","journal-title":"Int J Mol Sci"},{"key":"9601_CR47","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1161\/circresaha.117.309711","volume":"121","author":"WJ McKenna","year":"2017","unstructured":"McKenna WJ, Maron BJ, Thiene G (2017) Classification, epidemiology, and global burden of cardiomyopathies. Circ Res 121:722\u2013730. https:\/\/doi.org\/10.1161\/circresaha.117.309711","journal-title":"Circ Res"},{"key":"9601_CR48","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1186\/s12883-018-1078-4","volume":"18","author":"J Miao","year":"2018","unstructured":"Miao J, Su FF, Liu XM, Wei XJ, Yuan Y, Yu XF (2018) A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family. BMC Neurol 18:79. https:\/\/doi.org\/10.1186\/s12883-018-1078-4","journal-title":"BMC Neurol"},{"key":"9601_CR49","doi-asserted-by":"publisher","first-page":"2775","DOI":"10.1016\/j.bbamcr.2015.02.022","volume":"1853","author":"PA Ney","year":"2015","unstructured":"Ney PA (2015) Mitochondrial autophagy: origins, significance, and role of BNIP3 and NIX. Biochim Biophys Acta 1853:2775\u20132783. https:\/\/doi.org\/10.1016\/j.bbamcr.2015.02.022","journal-title":"Biochim Biophys Acta"},{"key":"9601_CR50","doi-asserted-by":"publisher","first-page":"1703","DOI":"10.1016\/j.ajpath.2013.08.010","volume":"183","author":"MI Nilsson","year":"2013","unstructured":"Nilsson MI et al (2013) Xin is a marker of skeletal muscle damage severity in myopathies. Am J Pathol 183:1703\u20131709. https:\/\/doi.org\/10.1016\/j.ajpath.2013.08.010","journal-title":"Am J Pathol"},{"key":"9601_CR51","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1016\/j.hrthm.2012.11.018","volume":"10","author":"M Noorman","year":"2013","unstructured":"Noorman M et al (2013) Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy. Heart Rhythm 10:412\u2013419. https:\/\/doi.org\/10.1016\/j.hrthm.2012.11.018","journal-title":"Heart Rhythm"},{"key":"9601_CR52","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1097\/WCO.0b013e328364d6b1","volume":"26","author":"M Oliv\u00e9","year":"2013","unstructured":"Oliv\u00e9 M, Kley RA, Goldfarb LG (2013) Myofibrillar myopathies: new developments. Curr Opin Neurol 26:527\u2013535. https:\/\/doi.org\/10.1097\/WCO.0b013e328364d6b1","journal-title":"Curr Opin Neurol"},{"key":"9601_CR53","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1046\/j.1365-2990.2003.00428.x","volume":"29","author":"J Reimann","year":"2003","unstructured":"Reimann J, Kunz WS, Vielhaber S, Kappes-Horn K, Schr\u00f6der R (2003) Mitochondrial dysfunction in myofibrillar myopathy. Neuropathol Appl Neurobiol 29:45\u201351","journal-title":"Neuropathol Appl Neurobiol"},{"key":"9601_CR54","doi-asserted-by":"publisher","first-page":"4073","DOI":"10.1093\/hmg\/dds231","volume":"21","author":"AA Ruparelia","year":"2012","unstructured":"Ruparelia AA, Zhao M, Currie PD, Bryson-Richardson RJ (2012) Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. Hum Mol Genet 21:4073\u20134083. https:\/\/doi.org\/10.1093\/hmg\/dds231","journal-title":"Hum Mol Genet"},{"key":"9601_CR55","doi-asserted-by":"publisher","first-page":"2131","DOI":"10.1093\/hmg\/ddw080","volume":"25","author":"AA Ruparelia","year":"2016","unstructured":"Ruparelia AA, Oorschot V, Ramm G, Bryson-Richardson RJ (2016) FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. Hum Mol Genet 25:2131\u20132142. https:\/\/doi.org\/10.1093\/hmg\/ddw080","journal-title":"Hum Mol Genet"},{"key":"9601_CR56","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1007\/s00392-018-1354-8","volume":"108","author":"S Rupp","year":"2018","unstructured":"Rupp S et al (2018) Genetic basis of hypertrophic cardiomyopathy in children. Clin Res Cardiol 108:282\u2013289. https:\/\/doi.org\/10.1007\/s00392-018-1354-8","journal-title":"Clin Res Cardiol"},{"key":"9601_CR57","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1161\/01.res.86.7.723","volume":"86","author":"JE Saffitz","year":"2000","unstructured":"Saffitz JE, Laing JG, Yamada KA (2000) Connexin expression and turnover: implications for cardiac excitability. Circ Res 86:723\u2013728. https:\/\/doi.org\/10.1161\/01.res.86.7.723","journal-title":"Circ Res"},{"key":"9601_CR58","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1016\/j.ymgme.2018.01.001","volume":"123","author":"A Sch\u00e4nzer","year":"2018","unstructured":"Sch\u00e4nzer A et al (2018) Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3. Mol Genet Metabol 123:388\u2013399. https:\/\/doi.org\/10.1016\/j.ymgme.2018.01.001","journal-title":"Mol Genet Metabol"},{"key":"9601_CR59","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1038\/nmeth.2019","volume":"9","author":"J Schindelin","year":"2012","unstructured":"Schindelin J et al (2012) Fiji: an open-source platform for biological-image analysis. Nat Methods 9:676\u2013682. https:\/\/doi.org\/10.1038\/nmeth.2019","journal-title":"Nat Methods"},{"key":"9601_CR60","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1111\/j.1750-3639.2009.00289.x","volume":"19","author":"R Schr\u00f6der","year":"2009","unstructured":"Schr\u00f6der R, Schoser B (2009) Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol 19:483\u2013492. https:\/\/doi.org\/10.1111\/j.1750-3639.2009.00289.x","journal-title":"Brain Pathol"},{"key":"9601_CR61","doi-asserted-by":"publisher","first-page":"2083","DOI":"10.1002\/humu.23661","volume":"39","author":"J Schubert","year":"2018","unstructured":"Schubert J, Tariq M, Geddes G, Kindel S, Miller EM, Ware SM (2018) Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy. Hum Mutat 39:2083\u20132096. https:\/\/doi.org\/10.1002\/humu.23661","journal-title":"Hum Mutat"},{"key":"9601_CR62","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1186\/s40478-020-01001-9","volume":"8","author":"J Schuld","year":"2020","unstructured":"Schuld J et al (2020) Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation. Acta Neuropathol Commun 8:154. https:\/\/doi.org\/10.1186\/s40478-020-01001-9","journal-title":"Acta Neuropathol Commun"},{"key":"9601_CR63","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.nmd.2010.12.007","volume":"21","author":"D Selcen","year":"2011","unstructured":"Selcen D (2011) Myofibrillar myopathies. Neuromuscul Disord 21:161\u2013171. https:\/\/doi.org\/10.1016\/j.nmd.2010.12.007","journal-title":"Neuromuscul Disord"},{"key":"9601_CR64","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1002\/(sici)1521-1878(200002)22:2<188::aid-bies10>3.0.co;2-t","volume":"22","author":"NJ Severs","year":"2000","unstructured":"Severs NJ (2000) The cardiac muscle cell. BioEssays 22:188\u2013199. https:\/\/doi.org\/10.1002\/(sici)1521-1878(200002)22:2%3c188::aid-bies10%3e3.0.co;2-t","journal-title":"BioEssays"},{"key":"9601_CR65","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1159\/000092572","volume":"42","author":"NJ Severs","year":"2006","unstructured":"Severs NJ et al (2006) Alterations in cardiac connexin expression in cardiomyopathies. Adv Cardiol 42:228\u2013242. https:\/\/doi.org\/10.1159\/000092572","journal-title":"Adv Cardiol"},{"key":"9601_CR66","doi-asserted-by":"publisher","first-page":"2613","DOI":"10.1111\/j.1742-4658.2005.04708.x","volume":"272","author":"Y Sun","year":"2005","unstructured":"Sun Y, MacRae TH (2005) The small heat shock proteins and their role in human disease. FEBS J 272:2613\u20132627. https:\/\/doi.org\/10.1111\/j.1742-4658.2005.04708.x","journal-title":"FEBS J"},{"key":"9601_CR67","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1002\/jcp.25476","volume":"232","author":"FG Tahrir","year":"2017","unstructured":"Tahrir FG, Knezevic T, Gupta MK, Gordon J, Cheung JY, Feldman AM, Khalili K (2017) Evidence for the role of BAG3 in mitochondrial quality control in cardiomyocytes. Cell Physiol 232:797\u2013805. https:\/\/doi.org\/10.1002\/jcp.25476","journal-title":"Cell Physiol"},{"key":"9601_CR68","doi-asserted-by":"publisher","first-page":"8122","DOI":"10.1002\/jcp.27597","volume":"234","author":"FG Tahrir","year":"2019","unstructured":"Tahrir FG, Langford D, Amini S, Mohseni Ahooyi T, Khalili K (2019) Mitochondrial quality control in cardiac cells: mechanisms and role in cardiac cell injury and disease. J Cell Physiol 234:8122\u20138133. https:\/\/doi.org\/10.1002\/jcp.27597","journal-title":"J Cell Physiol"},{"key":"9601_CR69","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1083\/jcb.148.1.115","volume":"148","author":"TG Thompson","year":"2000","unstructured":"Thompson TG et al (2000) Filamin 2 (FLN2): a muscle-specific sarcoglycan interacting protein. J Cell Biol 148:115\u2013126. https:\/\/doi.org\/10.1083\/jcb.148.1.115","journal-title":"J Cell Biol"},{"key":"9601_CR70","doi-asserted-by":"publisher","first-page":"D364","DOI":"10.1093\/nar\/gku1028","volume":"43","author":"WG Touw","year":"2015","unstructured":"Touw WG, Baakman C, Black J, te Beek TA, Krieger E, Joosten RP, Vriend G (2015) A series of PDB-related databanks for everyday needs. Nucleic Acids Res 43:D364-368. https:\/\/doi.org\/10.1093\/nar\/gku1028","journal-title":"Nucleic Acids Res"},{"key":"9601_CR71","doi-asserted-by":"publisher","first-page":"2347","DOI":"10.1253\/circj.CJ-14-0893","volume":"78","author":"JA Towbin","year":"2014","unstructured":"Towbin JA (2014) Inherited cardiomyopathies. Circ J 78:2347\u20132356","journal-title":"Circ J"},{"key":"9601_CR72","first-page":"101","volume":"64","author":"O Traub","year":"1994","unstructured":"Traub O et al (1994) Immunochemical and electrophysiological characterization of murine connexin40 and -43 in mouse tissues and transfected human cells. Eur J Cell Biol 64:101\u2013112","journal-title":"Eur J Cell Biol"},{"key":"9601_CR73","doi-asserted-by":"publisher","DOI":"10.1161\/circgenetics.117.001780","author":"NR Tucker","year":"2017","unstructured":"Tucker NR et al (2017) Novel mutation in FLNC (filamin C) causes familial restrictive cardiomyopathy. Circ Cardiovasc Genet. https:\/\/doi.org\/10.1161\/circgenetics.117.001780","journal-title":"Circ Cardiovasc Genet"},{"key":"9601_CR74","doi-asserted-by":"publisher","first-page":"5326","DOI":"10.1038\/ncomms6326","volume":"5","author":"R Vald\u00e9s-Mas","year":"2014","unstructured":"Vald\u00e9s-Mas R et al (2014) Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. Nat Commun 5:5326. https:\/\/doi.org\/10.1038\/ncomms6326","journal-title":"Nat Commun"},{"key":"9601_CR75","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1002\/(sici)1097-0169(200002)45:2<149::aid-cm6>3.0.co;2-g","volume":"45","author":"PF van der Ven","year":"2000","unstructured":"van der Ven PF, Obermann WM, Lemke B, Gautel M, Weber K, F\u00fcrst DO (2000a) Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin\/ABP-L in sarcomeric Z-disc formation. Cell Motil Cytoskeleton 45:149\u2013162. https:\/\/doi.org\/10.1002\/(sici)1097-0169(200002)45:2%3c149::aid-cm6%3e3.0.co;2-g","journal-title":"Cell Motil Cytoskeleton"},{"key":"9601_CR76","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1083\/jcb.151.2.235","volume":"151","author":"PF van der Ven","year":"2000","unstructured":"van der Ven PF et al (2000b) Indications for a novel muscular dystrophy pathway. Gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin. J Cell Biol 151:235\u2013248. https:\/\/doi.org\/10.1083\/jcb.151.2.235","journal-title":"J Cell Biol"},{"key":"9601_CR77","doi-asserted-by":"publisher","first-page":"2154","DOI":"10.1016\/j.yexcr.2006.03.015","volume":"312","author":"PF van der Ven","year":"2006","unstructured":"van der Ven PF et al (2006) Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena\/VASP. Exp Cell Res 312:2154\u20132167. https:\/\/doi.org\/10.1016\/j.yexcr.2006.03.015","journal-title":"Exp Cell Res"},{"key":"9601_CR78","doi-asserted-by":"publisher","first-page":"1091","DOI":"10.1002\/humu.24004","volume":"41","author":"JAJ Verdonschot","year":"2020","unstructured":"Verdonschot JAJ et al (2020) A mutation update for the FLNC gene in myopathies and cardiomyopathies. Hum Mutat 41:1091\u20131111. https:\/\/doi.org\/10.1002\/humu.24004","journal-title":"Hum Mutat"},{"key":"9601_CR79","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1016\/j.nmd.2016.08.004","volume":"26","author":"AE Vincent","year":"2016","unstructured":"Vincent AE et al (2016) Mitochondrial dysfunction in myofibrillar myopathy. Neuromuscul Disord 26:691\u2013701. https:\/\/doi.org\/10.1016\/j.nmd.2016.08.004","journal-title":"Neuromuscul Disord"},{"key":"9601_CR80","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1086\/431959","volume":"77","author":"M Vorgerd","year":"2005","unstructured":"Vorgerd M et al (2005) A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet 77:297\u2013304. https:\/\/doi.org\/10.1086\/431959","journal-title":"Am J Hum Genet"},{"key":"9601_CR81","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1038\/nrcardio.2014.157","volume":"11","author":"MH Yacoub","year":"2014","unstructured":"Yacoub MH (2014) Decade in review\u2014cardiomyopathies: cardiomyopathy on the move. Nat Rev Cardiol 11:628\u2013629. https:\/\/doi.org\/10.1038\/nrcardio.2014.157","journal-title":"Nat Rev Cardiol"},{"key":"9601_CR82","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1038\/nm719","volume":"8","author":"MG Yussman","year":"2002","unstructured":"Yussman MG et al (2002) Mitochondrial death protein Nix is induced in cardiac hypertrophy and triggers apoptotic cardiomyopathy. Nat Med 8:725\u2013730. https:\/\/doi.org\/10.1038\/nm719","journal-title":"Nat Med"},{"key":"9601_CR83","doi-asserted-by":"publisher","first-page":"2986","DOI":"10.4103\/0366-6999.247208","volume":"131","author":"YT Zhang","year":"2018","unstructured":"Zhang YT, Pu CQ, Ban R, Liu HX, Shi Q, Lu XH (2018) Clinical, pathological, and genetic features of two Chinese cases with filamin C myopathy. Chin Med J 131:2986\u20132988. https:\/\/doi.org\/10.4103\/0366-6999.247208","journal-title":"Chin Med J"},{"key":"9601_CR84","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1161\/circulationaha.119.044061","volume":"141","author":"Y Zhou","year":"2020","unstructured":"Zhou Y et al (2020) Loss of filamin C is catastrophic for heart function. Circulation 141:869\u2013871. https:\/\/doi.org\/10.1161\/circulationaha.119.044061","journal-title":"Circulation"}],"container-title":["Journal of Muscle Research and Cell Motility"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10974-021-09601-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10974-021-09601-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10974-021-09601-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T06:02:43Z","timestamp":1628834563000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10974-021-09601-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,12]]},"references-count":84,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["9601"],"URL":"https:\/\/doi.org\/10.1007\/s10974-021-09601-1","relation":{},"ISSN":["0142-4319","1573-2657"],"issn-type":[{"value":"0142-4319","type":"print"},{"value":"1573-2657","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,12]]},"assertion":[{"value":"3 April 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 February 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 March 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This work was approved by the ethical committee of the University of Giessen, and written informed consent was obtained from all patients.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}