REFERENCES
1. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association scientific statement from the council on clinical cardiology, heart hailure and transplantation committee; quality of care and outcomes research and functional genomics and translational biology interdisciplinary working groups; and council on epidemiology and prevention. Circulation 2006;113:1807-16.
3. Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagnostics 2013;15:158-67.
4. Konta L, Franklin RC, Kaski JP. Nomenclature and systems of classification for cardiomyopathy in children. Cardiol Young 2015;25:31-42.
5. Richardson P, McKenna W, Bristow M, Maisch B, Mautner B, O' Connell J, Olsen E, Thiene G, Goodwin J, Gyarfas I, Martin I, Nordet P. Report of the 1995 World Health Organization/International Society and Federation of Cardiology task force on the definition and classification of cardiomyopathies. Circulation 1996;93:841-2.
6. Stone JR. Updates to the WHO classification of cardiomyopathies. Acad Forensic Pathol 2011;1:202-5.
7. Ho CY, Charron P, Richard P, Girolami F, Van Spaendonck-Zwarts KY, Pinto Y. Genetic advances in sarcomeric cardiomyopathies: state of the art. Cardiovasc Res 2015;105:397-408.
8. Kostareva A, Kiselev A, Gudkova A, Frishman G, Ruepp A, Frishman D, Ruepp A, Frishman D, Smolina N, Tarnovskaya S, Nilsson D, Zlotina A, Khodyuchenko T, Versninina T, Pervunina T, Klyushina A, Kozlenok A, Sjoberg G, Golovjova I, Sejersen T, Shlyakhto E. Genetic spectrum of idiopathic restrictive cardiomyopathy uncovered by next-generation sequencing. PLoS One 2016;11:e0163362.
9. Burke MA, Cook SA, Seidman JG, Seidman CE. Clinical and mechanistic insights into the genetics of cardiomyopathy. J Am Coll Cardiol 2016;68:2871-86.
10. Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R, Feng Z, Müller S, Kayvanpour E, Vogel B, Sedaghat-Hamedani F, Lim WK, Zhao X, Fradkin D, Köhler D, Fischer S, Franke J, Marquart S, Barb I, Li DT, Amr A, Ehlermann P, Mereles D, Weis T, Hassel S, Kremer A, King V, Wirsz E, Isnard R, Komajda M, Serio A, Grasso M, Syrris P, Wicks E, Plagnol V, Lopes L, Gadgaard T, Eiskjær H, Jørgensen M, Garcia-Giustiniani D, Ortiz-Genga M, Crespo-Leiro MG, Deprez RH, Christiaans I, van Rijsingen IA, Wilde AA, Waldenstrom A, Bolognesi M, Bellazzi R, Mörner S, Bermejo JL, Monserrat L, Villard E, Mogensen J, Pinto YM, Charron P, Elliott P, Arbustini E, Katus HA, Meder B. Atlas of the clinical genetics of dilated cardiomyopathy. Eur Heart J 2015;36:1123-35.
11. Gallego-Delgado M, Delgado JF, Brossa-Loidi V, Palomo J, Marzoa-Rivas R, Perez-Villa F, Salazar-Mendiguchia J, Ruiz-Cano MJ, Gonzalez-Lopez E, Padron-Barthe L, Bornstein B, Alonso-Pulpon L, Garcia-Pavia P. Idiopathic restrictive cardiomyopathy is primarily a genetic disease. J Am Coll Cardiol 2016;67:3021-3.
12. Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, Pankuweit S, Perrot A, Rapezzi C, Ristic A, Seggewiss H, van Leangen I, Tavazzi L. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2010;31:2715-26.
13. Ploski R, Rydzanicz M, Ksiazczyk TM, Franaszczyk M, Pollak A, Kosinska J, Michalak E, Stawinski P, Siolkowska L, Bilinska ZT, Werner B. Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. Am J Med Genet A 2016;170:3241-8.
14. Yu HC, Coughlin CR, Geiger EA, Salvador BJ, Elias ER, Cavanaugh JL, Chatfield KC, Miyamoto SD, Shaikh TH. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. Cold Spring Harb Mol Case Stud 2016;2:a000844.
15. Teo LY, Moran RT, Tang WH. Evolving approaches to genetic evaluation of specific cardiomyopathies. Curr Heart Failure Rep 2015;12:339-49.
17. Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J, FORGE Canada Consortium, Gerull B. Mutations in FLNC are associated with familial restrictive cardiomyopathy. Hum Mutat 2016;37:269-79.
18. Wu W, Lu CX, Wang YN, Liu F, Chen W, Liu YT, Han YC, Cao J, Zhang SY, Zhang X. Novel phenotype-genotype correlations of restrictive cardiomyopathy with myosin-binding protein C (MYBPC3) gene mutations tested by next-generation sequencing. J Am Heart Assoc 2015;4:001879.
19. Zhang J, Kumar A, Kaplan L, Fricker FJ, Wallace MR. Genetic linkage of a novel autosomal dominant restrictive cardiomyopathy locus. J Med Genet 2005;42:663-5.
20. Zhang J, Kumar A, Stalker H, Virdi G, Ferrans V, Horiba K, Fricker FJ, Wallace M. Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy. Clin Genet 2001;59:248-56.
21. van der Ven PF, Obermann WM, Lemke B, Gautel M, Weber K, Fürst DO. Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation. Cell Motil Cytoskeleton 2000;45:149-62.
22. Sethi R, Ylänne J. Small-angle X-ray scattering reveals compact domain-domain interactions in the n-terminal region of filamin C. PLoS One 2014;9:e107457.
23. Molt S, Bührdel JB, Yakovlev S, Schein P, Orfanos Z, Kirfel G, Winter L, Wiche G, van der Van PF, Rottbauer W, Just S, Belkin AM, Fürst DO. Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance. J Cell Sci 2014;127:3578-92.
24. Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Pe-a ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L. Truncating FLNC mutations are associated with high-risk dilated and arrhythmogenic cardiomyopathies. J Am Coll Cardiol 2016;68:2440-51.
25. Valdés-Mas R, Gutiérrez-Fernández A, Gómez J, Coto E, Astudillo A, Puente DA, Reguero JR, Alvarez V, Moris C, Leon D, Martin M, Puente XS, López-Otín C. Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. Nat Commun 2014;5:5326.
26. Leber Y, Ruparelia AA, Kirfel G, van der Ven PFM, Hoffmann B, Merkel R, Bryson-Richardson RJ, Fürst DO. Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage. Hum Mol Genet 2016;25:2776-88.
27. Azzimato V, Genneback N, Tabish AM, Buyandelger B, Knoll R. Desmin, desminopathy, and the complexity of genetics. J Mol Cell Cardiol 2016;92:93-5.
28. Tucker NR, McLellan MA, Hu D, Ye J, Parsons VA, Mills RW, Clauss S, Dolmatova E, Shea MA, Milan DJ, Scott NS, Lindsay M, Lubitz SA, Domian IJ, Stone JR, Llin H, Ellinore PT. Novel mutation in FLNC (filamin C) causes familial restrictive cardiomyopathy. Circ Cardiovasc Genet 2017;10:e001780.
29. Gomez J, Lorca R, Reguero JR, Moris C, Martin M, Tranche S, Alonso B, Iglesias S, Alvarez V, Diaz-Molina B, Avanzas P, Coto E. Screening of the filamin C gene in a large cohort of hypertrophic cardiomyopathy patients. Circ Cardiovasc Genet 2017;10:e001584.
30. Avila-Smirnow D, Gueneau L, Batonnet-Pichon S, Delort F, Bécane H, Claeys, K., Beuvin M, Goudeau B, Jais JP, Nelson I, Richard P, Ben Yaou R, Romero NB, Wahbi K, Mathis S, Voit T, Furst D, van der Ven P, Gil R, Vicart P, Fardeau M, Bonne G, Behin A. Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. Neurolog Rev 2016;172:594-606.
31. Bang ML. Animal models of congenital cardiomyopathies associated with mutations in Z-line proteins. J Cell Physiol 2016;232:1-15.
32. Maerkens A, Kley RA, Olivé M, Theis V, van der Ven PF, Reimann J, Milting H, Schreiner A, Uszkoreit J, Eisenacher M, Barkovits K, Güttsches AK, Tonillo J, Kuhlmann K, Meyer HE, Schröder R, Tegenthoff M, Fürst DO, Müller T, Goldfarb LG, Vorgerd M, Marcus K. Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy. J Proteomics 2013;90:14-27.
33. Ton VK, Mukherjee M, Judge DP. Transthyretin cardiac amyloidosis: pathogenesis, treatments, and emerging role in heart failure with preserved ejection fraction. Clin Med Insights Cardiol 2015;8:39-44.
34. van den Bogaart FJ, Claeys KG, Kley R, Kusters B, Schrading S, Kamsteeg EJ, Voermans NC. Widening the spectrum of filamin-C myopathy: predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC. Neuromusc Disorders 2017;27:73-7.
35. Ruparelia AA, Oorschot V, Ramm G, Bryson-Richardson RJ. FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. Hum Mol Genet 2016;25:2131-42.
36. Jo BS, Koh IU, Bae JB, Yu HY, Jeon ES, Lee HY, Kim JJ, Choi M, Choi SS. Data of methylome and transcriptome derived from human dilated cardiomyopathy. Data Brief 2016;9:382-7.
37. Esslinger U, Garnier S, Korniat A, Proust C, Kararigas G, Müller-Nurasyid M, Empana JP, Morley MP, Perret C, Stark K, Bick AG, Prasad SK, Kriebel J, Li J, Tiret L, Strauch K, O'Regan DP, Marguiles KB, Seidman JG, Boutouyrie P, Lacolley P, Jouven X, Hengstenberg C, Komajda M, Hakonarson H, Isnard R, Arbustini E, Grallert H, Cook SA, Seidman CE, Regitz-Zagrosek V, Cappola TP, Charron P, Cambien F, Villard E. Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy. PLoS One 2017;12:e0172995.
