{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T13:49:28Z","timestamp":1787060968996,"version":"build-2736575974"},"reference-count":71,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T00:00:00Z","timestamp":1720483200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T00:00:00Z","timestamp":1720483200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004923","name":"AFM-T\u00e9l\u00e9thon","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004923","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genome Med"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a genetic diagnosis, precluding genetic counseling and appropriate clinical management. Our objective was to find novel pathogenic variants and genes associated with congenital myopathies and to decrease diagnostic odysseys and dead-end.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>To identify pathogenic variants and genes implicated in congenital myopathies, we established and conducted the MYOCAPTURE project from 2009 to 2018 to perform exome sequencing in a large cohort of 310 families partially excluded for the main known genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Pathogenic variants were identified in 156 families (50%), among which 123 families (40%) had a conclusive diagnosis. Only 44 (36%) of the resolved cases were linked to a known myopathy gene with the corresponding phenotype, while 55 (44%) were linked to pathogenic variants in a known myopathy gene with atypical signs, highlighting that most genetic diagnosis could not be anticipated based on clinical\u2013histological assessments in this cohort. An important phenotypic and genetic heterogeneity was observed for the different genes and for the different congenital myopathy subtypes, respectively. In addition, we identified 14 new myopathy genes not previously associated with muscle diseases (20% of all diagnosed cases) that we previously reported in the literature, revealing novel pathomechanisms and potential therapeutic targets.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Overall, this approach illustrates the importance of massive parallel gene sequencing as a comprehensive tool for establishing a molecular diagnosis for families with congenital myopathies. It also emphasizes the contribution of clinical data, histological findings on muscle biopsies, and the availability of DNA samples from additional family members to the diagnostic success rate. This study facilitated and accelerated the genetic diagnosis of congenital myopathies, improved health care for several patients, and opened novel perspectives for either repurposing of existing molecules or the development of novel treatments.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13073-024-01353-0","type":"journal-article","created":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T13:02:12Z","timestamp":1720530132000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes\u2013phenotypes correlations"],"prefix":"10.1186","volume":"16","author":[{"given":"Yvan","family":"de Feraudy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Vandroux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norma Beatriz","family":"Romero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rapha\u00ebl","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safaa","family":"Saker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Boland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Fran\u00e7ois","family":"Deleuze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Biancalana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johann","family":"B\u00f6hm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8256-5862","authenticated-orcid":false,"given":"Jocelyn","family":"Laporte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,7,9]]},"reference":[{"key":"1353_CR1","doi-asserted-by":"publisher","first-page":"662","DOI":"10.1002\/ana.22510","volume":"70","author":"K Amburgey","year":"2011","unstructured":"Amburgey K, McNamara N, Bennett LR, McCormick ME, Acsadi G, Dowling JJ. Prevalence of congenital myopathies in a representative pediatric united states population. Ann Neurol. 2011;70:662\u20135.","journal-title":"Ann Neurol"},{"key":"1353_CR2","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/j.nmd.2013.11.003","volume":"24","author":"KN North","year":"2014","unstructured":"North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, et al. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord NMD. 2014;24:97\u2013116.","journal-title":"Neuromuscul Disord NMD"},{"key":"1353_CR3","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1177\/0883073812436605","volume":"27","author":"CH Wang","year":"2012","unstructured":"Wang CH, Dowling JJ, North K, Schroth MK, Sejersen T, Shapiro F, et al. Consensus statement on standard of care for congenital myopathies. J Child Neurol. 2012;27:363\u201382.","journal-title":"J Child Neurol"},{"key":"1353_CR4","doi-asserted-by":"publisher","first-page":"e341","DOI":"10.1212\/NXG.0000000000000341","volume":"5","author":"S Nicolau","year":"2019","unstructured":"Nicolau S, Liewluck T, Tracy JA, Laughlin RS, Milone M. Congenital myopathies in the adult neuromuscular clinic. Neurol Genet. 2019;5:e341.","journal-title":"Neurol Genet"},{"key":"1353_CR5","doi-asserted-by":"publisher","first-page":"3694","DOI":"10.3390\/ijms21103694","volume":"21","author":"GK Papadimas","year":"2020","unstructured":"Papadimas GK, Xirou S, Kararizou E, Papadopoulos C. Update on congenital myopathies in adulthood. Int J Mol Sci. 2020;21:3694.","journal-title":"Int J Mol Sci"},{"key":"1353_CR6","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1111\/ane.13632","volume":"146","author":"MJ Pinto","year":"2022","unstructured":"Pinto MJ, Passos BA, Grangeia A, Guimar\u00e3es J, Braz L. Congenital myopathies in adults: a diagnosis not to overlook. Acta Neurol Scand. 2022;146:152\u20139.","journal-title":"Acta Neurol Scand"},{"key":"1353_CR7","doi-asserted-by":"publisher","first-page":"1108","DOI":"10.1016\/j.nmd.2012.10.021","volume":"22","author":"J-C Kaplan","year":"2012","unstructured":"Kaplan J-C, Hamroun D. The 2013 version of the gene table of monogenic neuromuscular disorders (nuclear genome). Neuromuscul Disord NMD. 2012;22:1108\u201335.","journal-title":"Neuromuscul Disord NMD"},{"key":"1353_CR8","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1016\/j.nmd.2022.12.002","volume":"33","author":"L Benarroch","year":"2023","unstructured":"Benarroch L, Bonne G, Rivier F, Hamroun D. The 2023 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscul Disord NMD. 2023;33:76\u2013117.","journal-title":"Neuromuscul Disord NMD"},{"key":"1353_CR9","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1007\/s00401-012-1072-7","volume":"125","author":"N Vasli","year":"2013","unstructured":"Vasli N, Laporte J. Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders. Acta Neuropathol (Berl). 2013;125:173\u201385.","journal-title":"Acta Neuropathol (Berl)"},{"key":"1353_CR10","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1007\/s00401-012-0982-8","volume":"124","author":"N Vasli","year":"2012","unstructured":"Vasli N, B\u00f6hm J, Le Gras S, Muller J, Pizot C, Jost B, et al. Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol (Berl). 2012;124:273\u201383.","journal-title":"Acta Neuropathol (Berl)"},{"key":"1353_CR11","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1007\/s00401-016-1656-8","volume":"133","author":"V Schartner","year":"2017","unstructured":"Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, et al. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta Neuropathol (Berl). 2017;133:517\u201333.","journal-title":"Acta Neuropathol (Berl)"},{"key":"1353_CR12","doi-asserted-by":"publisher","first-page":"e796","DOI":"10.7717\/peerj.796","volume":"3","author":"V Geoffroy","year":"2015","unstructured":"Geoffroy V, Pizot C, Redin C, Piton A, Vasli N, Stoetzel C, et al. VaRank: a simple and powerful tool for ranking genetic variants. PeerJ. 2015;3:e796.","journal-title":"PeerJ"},{"key":"1353_CR13","doi-asserted-by":"publisher","first-page":"3812","DOI":"10.1093\/nar\/gkg509","volume":"31","author":"PC Ng","year":"2003","unstructured":"Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31:3812\u20134.","journal-title":"Nucleic Acids Res"},{"key":"1353_CR14","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248\u20139.","journal-title":"Nat Methods"},{"key":"1353_CR15","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1089\/1066527041410418","volume":"11","author":"G Yeo","year":"2004","unstructured":"Yeo G, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol J Comput Mol Cell Biol. 2004;11:377\u201394.","journal-title":"J Comput Biol J Comput Mol Cell Biol"},{"key":"1353_CR16","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","volume":"4","author":"MG Reese","year":"1997","unstructured":"Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comput Biol J Comput Mol Cell Biol. 1997;4:311\u201323.","journal-title":"J Comput Biol J Comput Mol Cell Biol"},{"key":"1353_CR17","doi-asserted-by":"publisher","first-page":"7155","DOI":"10.1093\/nar\/15.17.7155","volume":"15","author":"MB Shapiro","year":"1987","unstructured":"Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 1987;15:7155\u201374.","journal-title":"Nucleic Acids Res"},{"key":"1353_CR18","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetic and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201324.","journal-title":"Genet Med"},{"key":"1353_CR19","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1186\/s13073-020-00761-2","volume":"12","author":"BS Pedersen","year":"2020","unstructured":"Pedersen BS, Bhetariya PJ, Brown J, Kravitz SN, Marth G, Jensen RL, et al. Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches. Genome Med. 2020;12:62.","journal-title":"Genome Med"},{"key":"1353_CR20","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1016\/j.ajhg.2012.12.007","volume":"92","author":"J B\u00f6hm","year":"2013","unstructured":"B\u00f6hm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, et al. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet. 2013;92:271\u20138.","journal-title":"Am J Hum Genet."},{"key":"1353_CR21","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1002\/humu.23172","volume":"38","author":"J B\u00f6hm","year":"2017","unstructured":"B\u00f6hm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O\u2019Sullivan J, et al. ORAI1 Mutations with distinct channel gating defects in tubular aggregate myopathy. Hum Mutat. 2017;38:426\u201338.","journal-title":"Hum Mutat"},{"key":"1353_CR22","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1007\/s00401-017-1775-x","volume":"135","author":"J B\u00f6hm","year":"2018","unstructured":"B\u00f6hm J, Lornage X, Chevessier F, Birck C, Zanotti S, Cudia P, et al. CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy. Acta Neuropathol (Berl). 2018;135:149\u201351.","journal-title":"Acta Neuropathol (Berl)"},{"key":"1353_CR23","doi-asserted-by":"publisher","first-page":"1086","DOI":"10.1016\/j.ajhg.2016.09.005","volume":"99","author":"GL O\u2019Grady","year":"2016","unstructured":"O\u2019Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, et al. Variants in the oxidoreductase PYROXD1 cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. Am J Hum Genet. 2016;99:1086\u2013105.","journal-title":"Am J Hum Genet"},{"key":"1353_CR24","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1093\/brain\/aww257","volume":"140","author":"N Vasli","year":"2017","unstructured":"Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, et al. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain J Neurol. 2017;140:37\u201348.","journal-title":"Brain J Neurol"},{"key":"1353_CR25","doi-asserted-by":"publisher","first-page":"1078","DOI":"10.1016\/j.ajhg.2020.11.002","volume":"107","author":"S Donkervoort","year":"2020","unstructured":"Donkervoort S, Kutzner CE, Hu Y, Lornage X, Rendu J, Stojkovic T, et al. Pathogenic variants in the myosin chaperone UNC-45B cause progressive myopathy with eccentric cores. Am J Hum Genet. 2020;107:1078\u201395.","journal-title":"Am J Hum Genet"},{"key":"1353_CR26","doi-asserted-by":"publisher","first-page":"219","DOI":"10.3233\/JND-150085","volume":"2","author":"E Malfatti","year":"2015","unstructured":"Malfatti E, B\u00f6hm J, Lac\u00e8ne E, Beuvin M, Romero NB, Laporte J. A premature stop codon in MYO18B is associated with severe nemaline myopathy with cardiomyopathy. J Neuromuscul Dis. 2015;2:219\u201327.","journal-title":"J Neuromuscul Dis"},{"key":"1353_CR27","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1007\/s00401-019-01963-8","volume":"137","author":"X Lornage","year":"2019","unstructured":"Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, et al. ACTN2 mutations cause \u201cMultiple structured Core Disease\u201d (MsCD). Acta Neuropathol (Berl). 2019;137:501\u201319.","journal-title":"Acta Neuropathol (Berl)"},{"key":"1353_CR28","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1002\/ana.25772","volume":"88","author":"AR Foley","year":"2020","unstructured":"Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H, et al. GGPS1 mutations cause muscular dystrophy\/hearing loss\/ovarian insufficiency syndrome. Ann Neurol. 2020;88:332\u201347.","journal-title":"Ann Neurol"},{"key":"1353_CR29","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1038\/s41588-023-01651-0","volume":"56","author":"A T\u00f6pf","year":"2024","unstructured":"T\u00f6pf A, Cox DT, Zaharieva I, Di Leo V, Sarparanta J, Harald Jonson P, et al. Digenic inheritance involving a muscle specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet. 2024;56:395\u2013407.","journal-title":"Nat Genet."},{"key":"1353_CR30","doi-asserted-by":"publisher","first-page":"e3406","DOI":"10.1212\/WNL.0000000000010947","volume":"95","author":"X Lornage","year":"2020","unstructured":"Lornage X, Quijano-Roy S, Amthor H, Carlier RY, Monnier N, Deleuze J-F, et al. Asymmetric muscle weakness due to ACTA1 mosaic mutations. Neurology. 2020;95:e3406\u201311.","journal-title":"Neurology"},{"key":"1353_CR31","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1186\/s40478-021-01254-y","volume":"9","author":"V Biancalana","year":"2021","unstructured":"Biancalana V, Rendu J, Chaussenot A, Mecili H, Bieth E, Fradin M, et al. A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course. Acta Neuropathol Commun. 2021;9:155.","journal-title":"Acta Neuropathol Commun"},{"key":"1353_CR32","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1186\/s40478-018-0593-2","volume":"6","author":"V Biancalana","year":"2018","unstructured":"Biancalana V, Romero NB, Thuestad IJ, Ignatius J, Kataja J, Gardberg M, et al. Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy. Acta Neuropathol Commun. 2018;6:93.","journal-title":"Acta Neuropathol Commun"},{"key":"1353_CR33","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1111\/j.1365-2990.2010.01149.x","volume":"37","author":"JA Bevilacqua","year":"2011","unstructured":"Bevilacqua JA, Monnier N, Bitoun M, Eymard B, Ferreiro A, Monges S, et al. Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol. 2011;37:271\u201384.","journal-title":"Neuropathol Appl Neurobiol"},{"key":"1353_CR34","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1002\/ana.22119","volume":"68","author":"JM Wilmshurst","year":"2010","unstructured":"Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010;68:717\u201326.","journal-title":"Ann Neurol"},{"key":"1353_CR35","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1186\/s40478-018-0655-5","volume":"7","author":"M Garibaldi","year":"2019","unstructured":"Garibaldi M, Rendu J, Brocard J, Lacene E, Faur\u00e9 J, Brochier G, et al. \u201cDusty core disease\u201d (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. Acta Neuropathol Commun. 2019;7:3.","journal-title":"Acta Neuropathol Commun"},{"key":"1353_CR36","doi-asserted-by":"publisher","first-page":"1205","DOI":"10.1212\/WNL.0b013e3182a6ca62","volume":"81","author":"O Ceyhan-Birsoy","year":"2013","unstructured":"Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013;81:1205\u201314.","journal-title":"Neurology"},{"key":"1353_CR37","doi-asserted-by":"publisher","first-page":"2524","DOI":"10.1007\/s00415-019-09437-3","volume":"266","author":"A Berardo","year":"2019","unstructured":"Berardo A, Lornage X, Johari M, Evangelista T, Cejas C, Barroso F, et al. HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes. J Neurol. 2019;266:2524\u201334.","journal-title":"J Neurol"},{"key":"1353_CR38","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1007\/s10048-020-00632-3","volume":"22","author":"X Lornage","year":"2021","unstructured":"Lornage X, Mallaret M, Silva-Rojas R, Biancalana V, Giovannini D, Dieterich K, et al. Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy. Neurogenetics. 2021;22:33\u201341.","journal-title":"Neurogenetics"},{"key":"1353_CR39","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1002\/ana.25660","volume":"87","author":"RN Villar-Quiles","year":"2020","unstructured":"Villar-Quiles RN, Catervi F, Cabet E, Juntas-Morales R, Genetti CA, Gidaro T, et al. ASC-1 is a cell cycle regulator associated with severe and mild forms of myopathy. Ann Neurol. 2020;87:217\u201332.","journal-title":"Ann Neurol"},{"key":"1353_CR40","doi-asserted-by":"publisher","first-page":"1559","DOI":"10.1093\/hmg\/ddw033","volume":"25","author":"L Davignon","year":"2016","unstructured":"Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, et al. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. Hum Mol Genet. 2016;25:1559\u201373.","journal-title":"Hum Mol Genet"},{"key":"1353_CR41","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1136\/jmedgenet-2018-105390","volume":"56","author":"J B\u00f6hm","year":"2019","unstructured":"B\u00f6hm J, Malfatti E, Oates E, Jones K, Brochier G, Boland A, et al. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. J Med Genet. 2019;56:617\u201321.","journal-title":"J Med Genet"},{"key":"1353_CR42","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1007\/s00401-017-1724-8","volume":"134","author":"A Echaniz-Laguna","year":"2017","unstructured":"Echaniz-Laguna A, Lornage X, Lannes B, Schneider R, Bierry G, Dondaine N, et al. HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. Acta Neuropathol (Berl). 2017;134:163\u20135.","journal-title":"Acta Neuropathol (Berl)"},{"key":"1353_CR43","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1002\/ana.24900","volume":"81","author":"X Lornage","year":"2017","unstructured":"Lornage X, Malfatti E, Ch\u00e9raud C, Schneider R, Biancalana V, Cuisset J-M, et al. Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. Ann Neurol. 2017;81:467\u201373.","journal-title":"Ann Neurol"},{"key":"1353_CR44","first-page":"973","volume":"53","author":"HS Scott","year":"1993","unstructured":"Scott HS, Litjens T, Nelson PV, Thompson PR, Brooks DA, Hopwood JJ, et al. Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. Am J Hum Genet. 1993;53:973\u201386.","journal-title":"Am J Hum Genet"},{"key":"1353_CR45","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1002\/mus.26305","volume":"59","author":"MM Pinto","year":"2019","unstructured":"Pinto MM, Monges S, Malfatti E, Lubieniecki F, Lornage X, Alias L, et al. Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia. Muscle Nerve. 2019;59:137\u201341.","journal-title":"Muscle Nerve"},{"key":"1353_CR46","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1002\/humu.23899","volume":"41","author":"G Morin","year":"2020","unstructured":"Morin G, Biancalana V, Echaniz-Laguna A, Noury J-B, Lornage X, Moggio M, et al. Tubular aggregate myopathy and Stormorken syndrome: mutation spectrum and genotype\/phenotype correlation. Hum Mutat. 2020;41:17\u201337.","journal-title":"Hum Mutat"},{"key":"1353_CR47","doi-asserted-by":"publisher","first-page":"4197","DOI":"10.1073\/pnas.1312520111","volume":"111","author":"V Nesin","year":"2014","unstructured":"Nesin V, Wiley G, Kousi M, Ong E-C, Lehmann T, Nicholl DJ, et al. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. 2014;111:4197\u2013202.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1353_CR48","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1111\/cge.12888","volume":"91","author":"M Garibaldi","year":"2017","unstructured":"Garibaldi M, Fattori F, Riva B, Labasse C, Brochier G, Ottaviani P, et al. A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis. Clin Genet. 2017;91:780\u20136.","journal-title":"Clin Genet"},{"key":"1353_CR49","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1093\/hmg\/ddu477","volume":"24","author":"Y Endo","year":"2015","unstructured":"Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Miyatake S, et al. Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels. Hum Mol Genet. 2015;24:637\u201348.","journal-title":"Hum Mol Genet"},{"key":"1353_CR50","doi-asserted-by":"publisher","first-page":"1761","DOI":"10.1002\/humu.23338","volume":"38","author":"V Barone","year":"2017","unstructured":"Barone V, Del Re V, Gamberucci A, Polverino V, Galli L, Rossi D, et al. Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. Hum Mutat. 2017;38:1761\u201373.","journal-title":"Hum Mutat"},{"key":"1353_CR51","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1186\/s40478-019-0781-8","volume":"7","author":"X Lornage","year":"2019","unstructured":"Lornage X, Schartner V, Balbueno I, Biancalana V, Willis T, Echaniz-Laguna A, et al. Clinical, histological, and genetic characterization of PYROXD1-related myopathy. Acta Neuropathol Commun. 2019;7:138.","journal-title":"Acta Neuropathol Commun"},{"key":"1353_CR52","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1136\/jmedgenet-2014-102964","volume":"52","author":"AM Alazami","year":"2015","unstructured":"Alazami AM, Kentab AY, Faqeih E, Mohamed JY, Alkhalidi H, Hijazi H, et al. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. J Med Genet. 2015;52:400\u20134.","journal-title":"J Med Genet"},{"key":"1353_CR53","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1002\/humu.22544","volume":"35","author":"D Misceo","year":"2014","unstructured":"Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, et al. A dominant STIM1 mutation causes Stormorken syndrome. Hum Mutat. 2014;35:556\u201364.","journal-title":"Hum Mutat"},{"key":"1353_CR54","first-page":"1478","volume":"22","author":"A T\u00f6pf","year":"2020","unstructured":"T\u00f6pf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, et al. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med Off J Am Coll Med Genet. 2020;22:1478\u201388.","journal-title":"Genet Med Off J Am Coll Med Genet"},{"key":"1353_CR55","doi-asserted-by":"publisher","first-page":"1424","DOI":"10.1001\/jamaneurol.2015.2274","volume":"72","author":"R Ghaoui","year":"2015","unstructured":"Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, et al. Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned. JAMA Neurol. 2015;72:1424\u201332.","journal-title":"JAMA Neurol"},{"key":"1353_CR56","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1212\/WNL.0000000000002800","volume":"87","author":"M Savarese","year":"2016","unstructured":"Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, et al. The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients. Neurology. 2016;87:71\u20136.","journal-title":"Neurology"},{"key":"1353_CR57","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1136\/jmedgenet-2020-107595","volume":"59","author":"A Laquerriere","year":"2022","unstructured":"Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, et al. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. J Med Genet. 2022;59:559\u201367.","journal-title":"J Med Genet"},{"key":"1353_CR58","doi-asserted-by":"publisher","first-page":"eaal5209","DOI":"10.1126\/scitranslmed.aal5209","volume":"9","author":"BB Cummings","year":"2017","unstructured":"Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017;9:eaal5209.","journal-title":"Sci Transl Med."},{"key":"1353_CR59","doi-asserted-by":"publisher","first-page":"2447","DOI":"10.1007\/s00330-010-1799-2","volume":"20","author":"MP Wattjes","year":"2010","unstructured":"Wattjes MP, Kley RA, Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol. 2010;20:2447\u201360.","journal-title":"Eur Radiol"},{"key":"1353_CR60","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1002\/jmri.20804","volume":"25","author":"E Mercuri","year":"2007","unstructured":"Mercuri E, Pichiecchio A, Allsop J, Messina S, Pane M, Muntoni F. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging JMRI. 2007;25:433\u201340.","journal-title":"J Magn Reson Imaging JMRI"},{"key":"1353_CR61","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.1002\/acn3.51816","volume":"10","author":"L Perry","year":"2023","unstructured":"Perry L, Stimpson G, Singh L, Morrow JM, Shah S, Baranello G, et al. Muscle magnetic resonance imaging involvement patterns in nemaline myopathies. Ann Clin Transl Neurol. 2023;10:1219\u201329.","journal-title":"Ann Clin Transl Neurol"},{"key":"1353_CR62","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1016\/j.nmd.2015.04.007","volume":"25","author":"N Kraeva","year":"2015","unstructured":"Kraeva N, Heytens L, Jungbluth H, Treves S, Voermans N, Kamsteeg E, et al. Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. Neuromuscul Disord NMD. 2015;25:567\u201376.","journal-title":"Neuromuscul Disord NMD"},{"key":"1353_CR63","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/j.nmd.2010.01.014","volume":"20","author":"NB Romero","year":"2010","unstructured":"Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord NMD. 2010;20:223\u20138.","journal-title":"Neuromuscul Disord NMD"},{"key":"1353_CR64","doi-asserted-by":"publisher","first-page":"992","DOI":"10.1016\/j.nmd.2013.07.003","volume":"23","author":"E Malfatti","year":"2013","unstructured":"Malfatti E, Schaeffer U, Chapon F, Yang Y, Eymard B, Xu R, et al. Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. Neuromuscul Disord NMD. 2013;23:992\u20137.","journal-title":"Neuromuscul Disord NMD"},{"key":"1353_CR65","doi-asserted-by":"publisher","first-page":"e202213115","DOI":"10.1085\/jgp.202213115","volume":"154","author":"D Rossi","year":"2022","unstructured":"Rossi D, Catallo MR, Pierantozzi E, Sorrentino V. Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies. J Gen Physiol. 2022;154:e202213115.","journal-title":"J Gen Physiol"},{"key":"1353_CR66","doi-asserted-by":"publisher","first-page":"289","DOI":"10.3233\/JND-180314","volume":"6","author":"V Schartner","year":"2019","unstructured":"Schartner V, Laporte J, B\u00f6hm J. Abnormal excitation-contraction coupling and calcium homeostasis in myopathies and cardiomyopathies. J Neuromuscul Dis. 2019;6:289\u2013305.","journal-title":"J Neuromuscul Dis"},{"key":"1353_CR67","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1038\/nrneurol.2017.191","volume":"14","author":"H Jungbluth","year":"2018","unstructured":"Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, et al. Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. Nat Rev Neurol. 2018;14:151\u201367.","journal-title":"Nat Rev Neurol"},{"key":"1353_CR68","doi-asserted-by":"publisher","first-page":"102347","DOI":"10.1016\/j.coph.2022.102347","volume":"68","author":"F Protasi","year":"2023","unstructured":"Protasi F, Girolami B, Roccabianca S, Rossi D. Store-operated calcium entry: from physiology to tubular aggregate myopathy. Curr Opin Pharmacol. 2023;68:102347.","journal-title":"Curr Opin Pharmacol"},{"key":"1353_CR69","doi-asserted-by":"publisher","first-page":"604941","DOI":"10.3389\/fphys.2020.604941","volume":"11","author":"R Silva-Rojas","year":"2020","unstructured":"Silva-Rojas R, Laporte J, B\u00f6hm J. STIM1\/ORAI1 Loss-of-function and gain-of-function mutations inversely impact on SOCE and calcium homeostasis and cause multi-systemic mirror diseases. Front Physiol. 2020;11:604941.","journal-title":"Front Physiol"},{"key":"1353_CR70","doi-asserted-by":"publisher","first-page":"102605","DOI":"10.1016\/j.ceca.2022.102605","volume":"105","author":"B Riva","year":"2022","unstructured":"Riva B, Pessolano E, Quaglia E, Cordero-Sanchez C, Bhela IP, Topf A, et al. STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39. Cell Calcium. 2022;105:102605.","journal-title":"Cell Calcium"},{"key":"1353_CR71","doi-asserted-by":"publisher","first-page":"6968","DOI":"10.3390\/ijms23136968","volume":"23","author":"R Silva-Rojas","year":"2022","unstructured":"Silva-Rojas R, P\u00e9rez-Gu\u00e0rdia L, Lafabrie E, Moulaert D, Laporte J, B\u00f6hm J. Silencing of the Ca2+ channel ORAI1 improves the multi-systemic phenotype of tubular aggregate myopathy (TAM) and Stormorken Syndrome (STRMK) in mice. Int J Mol Sci. 2022;23:6968.","journal-title":"Int J Mol Sci"}],"container-title":["Genome Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13073-024-01353-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13073-024-01353-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13073-024-01353-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T14:10:42Z","timestamp":1720534242000},"score":1,"resource":{"primary":{"URL":"https:\/\/genomemedicine.biomedcentral.com\/articles\/10.1186\/s13073-024-01353-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,9]]},"references-count":71,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["1353"],"URL":"https:\/\/doi.org\/10.1186\/s13073-024-01353-0","relation":{},"ISSN":["1756-994X"],"issn-type":[{"value":"1756-994X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,9]]},"assertion":[{"value":"30 October 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 May 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 July 2024","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 present study was approved by the IRB Comit\u00e9 de Protection des Personnes Est IV (DC-2012\u20131693), and all participants or legal guardians provided written informed consents to the different clinical centers involved in the project. Our research conforms to the principles of the Helsinki Declaration.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Safaa Saker is employee of a for-profit organization (Genethon). The other authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"87"}}