{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T09:01:12Z","timestamp":1789894872997,"version":"4.0.1"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,5,27]],"date-time":"2019-05-27T00:00:00Z","timestamp":1558915200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,5,27]],"date-time":"2019-05-27T00:00:00Z","timestamp":1558915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"PRIN","award":["PRIN-2015-FBNB5Y"],"award-info":[{"award-number":["PRIN-2015-FBNB5Y"]}]},{"name":"EU project Solve-RD"},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["TGM11Z06"],"award-info":[{"award-number":["TGM11Z06"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GUP11006"],"award-info":[{"award-number":["GUP11006"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Skeletal Muscle"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1186\/s13395-019-0199-9","type":"journal-article","created":{"date-parts":[[2019,5,27]],"date-time":"2019-05-27T09:03:51Z","timestamp":1558947831000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation"],"prefix":"10.1186","volume":"9","author":[{"given":"Luciano","family":"Merlini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Sabatelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Antoniel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Carinci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Niro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Monetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Giugliano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesare","family":"Faldini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,5,27]]},"reference":[{"issue":"1","key":"199_CR1","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1016\/j.ajhg.2016.11.017","volume":"100","author":"S Miyatake","year":"2017","unstructured":"Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, et al. Biallelic mutations in MYPN, encoding myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy. Am J Hum Genet. 2017;100(1):169\u201378.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"199_CR2","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1016\/j.nmd.2006.01.014","volume":"16","author":"JM Cuisset","year":"2006","unstructured":"Cuisset JM, Maurage CA, Pellissier JF, Barois A, Urtizberea JA, Laing N, Tajsharghi H, Vallee L. \u2018Cap myopathy\u2019: case report of a family. Neuromuscul Disord. 2006;16(4):277\u201381.","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"199_CR3","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1002\/ana.24900","volume":"81","author":"X Lornage","year":"2017","unstructured":"Lornage X, Malfatti E, Cheraud C, Schneider R, Biancalana V, Cuisset JM, Garibaldi M, Eymard B, Fardeau M, Boland A, et al. Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. Ann Neurol. 2017;81(3):467\u201373.","journal-title":"Ann Neurol"},{"issue":"2","key":"199_CR4","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1083\/jcb.153.2.413","volume":"153","author":"ML Bang","year":"2001","unstructured":"Bang ML, Mudry RE, McElhinny AS, Trombitas K, Geach AJ, Yamasaki R, Sorimachi H, Granzier H, Gregorio CC, Labeit S. Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. J Cell Biol. 2001;153(2):413\u201327.","journal-title":"J Cell Biol"},{"issue":"1","key":"199_CR5","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1093\/cvr\/cvm015","volume":"77","author":"L Duboscq-Bidot","year":"2008","unstructured":"Duboscq-Bidot L, Xu P, Charron P, Neyroud N, Dilanian G, Millaire A, Bors V, Komajda M, Villard E. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 2008;77(1):118\u201325.","journal-title":"Cardiovasc Res"},{"issue":"6","key":"199_CR6","doi-asserted-by":"publisher","first-page":"1479","DOI":"10.3892\/ijmm.2015.2361","volume":"36","author":"Y Zhao","year":"2015","unstructured":"Zhao Y, Feng Y, Zhang YM, Ding XX, Song YZ, Zhang AM, Liu L, Zhang H, Ding JH, Xia XS. Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy. Int J Mol Med. 2015;36(6):1479\u201386.","journal-title":"Int J Mol Med"},{"issue":"9","key":"199_CR7","doi-asserted-by":"publisher","first-page":"2039","DOI":"10.1093\/hmg\/dds022","volume":"21","author":"E Purevjav","year":"2012","unstructured":"Purevjav E, Arimura T, Augustin S, Huby AC, Takagi K, Nunoda S, Kearney DL, Taylor MD, Terasaki F, Bos JM, et al. Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum Mol Genet. 2012;21(9):2039\u201353.","journal-title":"Hum Mol Genet"},{"issue":"9","key":"199_CR8","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1038\/ejhg.2012.283","volume":"21","author":"C Andreasen","year":"2013","unstructured":"Andreasen C, Nielsen JB, Refsgaard L, Holst AG, Christensen AH, Andreasen L, Sajadieh A, Haunso S, Svendsen JH, Olesen MS. New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. Eur J Hum Genet. 2013;21(9):918\u201328.","journal-title":"Eur J Hum Genet"},{"issue":"4","key":"199_CR9","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1016\/S0960-8966(01)00287-5","volume":"12","author":"FL Mastaglia","year":"2002","unstructured":"Mastaglia FL, Phillips BA, Cala LA, Meredith C, Egli S, Akkari PA, Laing NG. Early onset chromosome 14-linked distal myopathy (Laing). Neuromuscul Disord. 2002;12(4):350\u20137.","journal-title":"Neuromuscul Disord"},{"issue":"4","key":"199_CR10","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1086\/424760","volume":"75","author":"C Meredith","year":"2004","unstructured":"Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004;75(4):703\u20138.","journal-title":"Am J Hum Genet"},{"issue":"22","key":"199_CR11","doi-asserted-by":"publisher","first-page":"3527","DOI":"10.1016\/j.jmb.2015.08.018","volume":"427","author":"T Burgoyne","year":"2015","unstructured":"Burgoyne T, Morris EP, Luther PK. Three-dimensional structure of vertebrate muscle Z-band: the small-square lattice Z-band in rat cardiac muscle. J Mol Biol. 2015;427(22):3527\u201337.","journal-title":"J Mol Biol"},{"issue":"Pt 2","key":"199_CR12","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1242\/jeb.124941","volume":"219","author":"M Gautel","year":"2016","unstructured":"Gautel M, Djinovic-Carugo K. The sarcomeric cytoskeleton: from molecules to motion. J Exp Biol. 2016;219(Pt 2):135\u201345.","journal-title":"J Exp Biol"},{"issue":"5","key":"199_CR13","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1097\/WCO.0000000000000371","volume":"29","author":"V Nigro","year":"2016","unstructured":"Nigro V, Savarese M. Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders. Curr Opin Neurol. 2016;29(5):621\u20137.","journal-title":"Curr Opin Neurol"},{"key":"199_CR14","doi-asserted-by":"publisher","first-page":"1921","DOI":"10.12688\/f1000research.16422.1","volume":"7","author":"Gianina Ravenscroft","year":"2018","unstructured":"Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, Laing NG. Recent advances in understanding congenital myopathies. F1000Research, 7, F1000 Faculty Rev-1921. 2018. \n                    https:\/\/doi.org\/10.12688\/f1000research.16422.1\n                    \n                  .","journal-title":"F1000Research"},{"issue":"10","key":"199_CR15","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1016\/S0960-8966(03)00136-6","volume":"13","author":"M Kefi","year":"2003","unstructured":"Kefi M, Amouri R, Driss A, Ben Hamida C, Ben Hamida M, Kunkel LM, Hentati F. Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation. Neuromuscul Disord. 2003;13(10):779\u201387.","journal-title":"Neuromuscul Disord"},{"issue":"8","key":"199_CR16","doi-asserted-by":"publisher","first-page":"732","DOI":"10.1212\/WNL.0b013e3181eee4d5","volume":"75","author":"N Muelas","year":"2010","unstructured":"Muelas N, Hackman P, Luque H, Garces-Sanchez M, Azorin I, Suominen T, Sevilla T, Mayordomo F, Gomez L, Marti P, et al. MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. Neurology. 2010;75(8):732\u201341.","journal-title":"Neurology"},{"issue":"5\u20136","key":"199_CR17","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1016\/0960-8966(94)90091-4","volume":"4","author":"L Merlini","year":"1994","unstructured":"Merlini L, Morandi L, Granata C, Ballestrazzi A. Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families. Neuromuscul Disord. 1994;4(5\u20136):503\u201311.","journal-title":"Neuromuscul Disord"},{"issue":"10","key":"199_CR18","doi-asserted-by":"publisher","first-page":"984","DOI":"10.1016\/S0960-8966(02)00139-6","volume":"12","author":"G Pepe","year":"2002","unstructured":"Pepe G, Bertini E, Bonaldo P, Bushby K, Giusti B, de Visser M, Guicheney P, Lattanzi G, Merlini L, Muntoni F, et al. Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord. 2002;12(10):984\u201393.","journal-title":"Neuromuscul Disord"}],"container-title":["Skeletal Muscle"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13395-019-0199-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13395-019-0199-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13395-019-0199-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,25]],"date-time":"2020-05-25T23:14:46Z","timestamp":1590448486000},"score":1,"resource":{"primary":{"URL":"https:\/\/skeletalmusclejournal.biomedcentral.com\/articles\/10.1186\/s13395-019-0199-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,27]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["199"],"URL":"https:\/\/doi.org\/10.1186\/s13395-019-0199-9","relation":{},"ISSN":["2044-5040"],"issn-type":[{"value":"2044-5040","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,27]]},"assertion":[{"value":"31 October 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 April 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 May 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The studies were approved by the Ethics Committee of the University of Bologna.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient<b>s<\/b> for publication of this Case Report and any accompanying images. A copy of the written consent is available to Editors of this journal on request.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"14"}}