{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T16:49:12Z","timestamp":1790614152512,"version":"4.1.0"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2018,5,25]],"date-time":"2018-05-25T00:00:00Z","timestamp":1527206400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur Radiol"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1007\/s00330-018-5472-5","type":"journal-article","created":{"date-parts":[[2018,5,25]],"date-time":"2018-05-25T04:39:04Z","timestamp":1527223144000},"page":"5293-5303","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity"],"prefix":"10.1007","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8212-7790","authenticated-orcid":false,"given":"Mickael","family":"Tordjman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Dabaj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Laforet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrien","family":"Felter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Ferreiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moustafa","family":"Biyoukar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Law-Ye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edmar","family":"Zanoteli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Castiglioni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Rendu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Beroud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Chamouni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Richard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Mompoint","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Quijano-Roy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert-Yves","family":"Carlier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,5,25]]},"reference":[{"key":"5472_CR1","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/0960-8966(91)90039-U","volume":"1","author":"AE Emery","year":"1991","unstructured":"Emery AE (1991) Population frequencies of inherited neuromuscular diseases\u2013a world survey. Neuromuscul Disord 1:19\u201329","journal-title":"Neuromuscul Disord"},{"key":"5472_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 et al (2014) Approach to the diagnosis of congenital myopathies. Neuromuscul Disord 24:97\u2013116","journal-title":"Neuromuscul Disord"},{"key":"5472_CR3","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1016\/j.nmd.2013.12.011","volume":"24","author":"CG B\u00f6nnemann","year":"2014","unstructured":"B\u00f6nnemann CG, Wang CH, Quijano-Roy S et al (2014) Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord 24:289\u2013311","journal-title":"Neuromuscul Disord"},{"key":"5472_CR4","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1086\/342719","volume":"71","author":"A Ferreiro","year":"2002","unstructured":"Ferreiro A, Quijano-Roy S, Pichereau C et al (2002) Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 71:739\u2013749","journal-title":"Am J Hum Genet"},{"issue":"Suppl 2","key":"5472_CR5","doi-asserted-by":"publisher","first-page":"S68","DOI":"10.1016\/j.nmd.2012.08.003","volume":"22","author":"S Quijano-Roy","year":"2012","unstructured":"Quijano-Roy S, Avila-Smirnow D, Carlier RY, WB-MRI muscle study group (2012) Whole body muscle MRI protocol: pattern recognition in early onset NM disorders. Neuromuscul Disord 22(Suppl 2):S68\u2013S84","journal-title":"Neuromuscul Disord"},{"key":"5472_CR6","doi-asserted-by":"publisher","first-page":"2247","DOI":"10.1007\/s00330-010-1799-2","volume":"20","author":"MP Wattjes","year":"2010","unstructured":"Wattjes MP, Kley RA, Fischer D (2010) Neuromuscular imaging in inherited muscle diseases. Eur Radiol 20:2247\u20132460","journal-title":"Eur Radiol"},{"key":"5472_CR7","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 (2007) Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging 25:433\u2013440","journal-title":"J Magn Reson Imaging"},{"key":"5472_CR8","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1002\/mus.24634","volume":"52","author":"K Hankiewicz","year":"2015","unstructured":"Hankiewicz K, Carlier RY, Lazaro L et al (2015) Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern. Muscle Nerve 52:728\u2013735","journal-title":"Muscle Nerve"},{"key":"5472_CR9","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1002\/mus.25018","volume":"54","author":"D G\u00f3mez-Andr\u00e9s","year":"2016","unstructured":"G\u00f3mez-Andr\u00e9s D, Dabaj I, Mompoint D et al (2016) Pediatric laminopathies: whole-body magnetic resonance imaging fingerprint and comparison with SEPN1 myopathy. Muscle Nerve 54:192\u2013202","journal-title":"Muscle Nerve"},{"key":"5472_CR10","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1016\/j.nmd.2008.01.009","volume":"18","author":"N Carboni","year":"2008","unstructured":"Carboni N, Mura M, Marrosu G et al (2008) Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation. Neuromuscul Disord 18:291\u2013298","journal-title":"Neuromuscul Disord"},{"key":"5472_CR11","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1053\/ejpn.2002.0617","volume":"6","author":"E Mercuri","year":"2002","unstructured":"Mercuri E, Pichiecchio A, Counsell S et al (2002) A short protocol for muscle MRI in children with muscular dystrophies. Eur J Paediatr Neurol 6:305\u2013307","journal-title":"Eur J Paediatr Neurol"},{"key":"5472_CR12","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1097\/WCO.0000000000000364","volume":"29","author":"D Fischer","year":"2016","unstructured":"Fischer D, Bonati U, Wattjes MP (2016) Recent developments in muscle imaging of neuromuscular disorders. Current Opin Neurol 29:614\u2013620","journal-title":"Current Opin Neurol"},{"key":"5472_CR13","first-page":"219","volume":"66","author":"V Dubowitz","year":"1973","unstructured":"Dubowitz V (1973) Rigid spine syndrome: a muscle syndrome in search of a name. Proc R Soc Med 66:219\u2013220","journal-title":"Proc R Soc Med"},{"key":"5472_CR14","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1212\/01.wnl.0000251268.41188.04","volume":"68","author":"PS Kishnani","year":"2007","unstructured":"Kishnani PS, Corzo D, Nicolino M et al (2007) Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 68:99\u2013109","journal-title":"Neurology"},{"key":"5472_CR15","doi-asserted-by":"publisher","first-page":"1470","DOI":"10.1093\/brain\/awl077","volume":"129","author":"S Wu","year":"2006","unstructured":"Wu S, Ibarra MCA, Malicdan MCV et al (2006) Central core disease is due to RYR1 mutations in more than 90% of patients. Brain 129:1470\u20131480","journal-title":"Brain"},{"key":"5472_CR16","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 et al (2010) RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 68:717\u2013726","journal-title":"Ann Neurol"},{"key":"5472_CR17","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1093\/hmg\/ddi025","volume":"14","author":"NL Baker","year":"2005","unstructured":"Baker NL, M\u00f6rgelin M, Peat R et al (2005) Dominant Collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet 14:279\u2013293","journal-title":"Hum Mol Genet"},{"key":"5472_CR18","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1002\/ana.21417","volume":"64","author":"S Quijano-Roy","year":"2008","unstructured":"Quijano-Roy S, Mbieleu B, B\u00f6nnemann CG et al (2008) De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 64:177\u2013186","journal-title":"Ann Neurol"},{"key":"5472_CR19","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/j.jns.2010.09.011","volume":"300","author":"R Cagliani","year":"2011","unstructured":"Cagliani R, Fruguglietti ME, Berardinelli A et al (2011) New molecular findings in congenital myopathies due to selenoprotein N gene mutations. J Neurol Sci 300:107\u2013113","journal-title":"J Neurol Sci"},{"key":"5472_CR20","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1038\/ng713","volume":"29","author":"B Moghadaszadeh","year":"2001","unstructured":"Moghadaszadeh B, Petit N, Jaillard C et al (2001) Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet 29:17\u201318","journal-title":"Nat Genet"},{"key":"5472_CR21","doi-asserted-by":"publisher","first-page":"1983","DOI":"10.1016\/j.jocn.2015.04.016","volume":"22","author":"C Turner","year":"2015","unstructured":"Turner C, Mein R, Shape C, Love DR (2015) Merosin-deficient congenital muscular dystrophy: a novel homozygous mutation in the laminin-2 gene. J Clin Neurosci 22:1983\u20131985","journal-title":"J Clin Neurosci"},{"key":"5472_CR22","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1002\/ana.10693","volume":"54","author":"H Tajsharghi","year":"2003","unstructured":"Tajsharghi H, Thornell L-E, Lindberg C, Lindvall B, Henriksson K-G, Oldfors A (2003) Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol 54:494\u2013500","journal-title":"Ann Neurol"},{"key":"5472_CR23","doi-asserted-by":"publisher","first-page":"S54","DOI":"10.1016\/j.nmd.2012.06.005","volume":"22","author":"KG Hollingsworth","year":"2012","unstructured":"Hollingsworth KG, de Sousa PL, Straub V, Carlier PG (2012) Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: consensus recommendations from two TREAT-NMD NMR workshops, 2 May 2010, Stockholm, Sweden, 1-2 October 2009, Paris, France. Neuromuscul Disord 22:S54\u2013S67","journal-title":"Neuromuscul Disord"},{"key":"5472_CR24","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1055\/s-2002-23593","volume":"33","author":"E Mercuri","year":"2002","unstructured":"Mercuri E, Counsell S, Allsop J et al (2002) Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics 33:10\u201314","journal-title":"Neuropediatrics"},{"key":"5472_CR25","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1037\/h0031619","volume":"76","author":"JL Fleiss","year":"1971","unstructured":"Fleiss JL (1971) Measuring nominal scale agreement among many raters. Psychol Bull 76:378\u2013382","journal-title":"Psychol Bull"},{"key":"5472_CR26","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1177\/001316446002000104","volume":"20","author":"J Cohen","year":"1960","unstructured":"Cohen J (1960) A coefficient of agreement for nominal scales. Educ Psychol Meas 20:37\u201346","journal-title":"Educ Psychol Meas"},{"key":"5472_CR27","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1080\/01621459.1967.10482916","volume":"62","author":"HW Lilliefors","year":"1967","unstructured":"Lilliefors HW (1967) On the Kolmogorov-Smirnov test for normality with mean and variance unknown. J Am Stat Assoc 62:399\u2013402","journal-title":"J Am Stat Assoc"},{"issue":"1","key":"5472_CR28","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1214\/aoms\/1177730491","volume":"18","author":"H. B. Mann","year":"1947","unstructured":"Mann HB, Whitney DR (1947) On a test of whether one of two random variables is stochastically larger than the other. Ann Math Stat 50\u201360","journal-title":"The Annals of Mathematical Statistics"},{"key":"5472_CR29","doi-asserted-by":"publisher","first-page":"80","DOI":"10.2307\/3001968","volume":"1","author":"F Wilcoxon","year":"1945","unstructured":"Wilcoxon F (1945) Individual comparisons by ranking methods. Biom Bull 1:80","journal-title":"Biom Bull"},{"key":"5472_CR30","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1002\/ana.21846","volume":"67","author":"E Mercuri","year":"2010","unstructured":"Mercuri E, Clements E, Offiah A et al (2010) Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol 67:201\u2013208","journal-title":"Ann Neurol"},{"key":"5472_CR31","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1016\/j.nmd.2004.08.006","volume":"14","author":"H Jungbluth","year":"2004","unstructured":"Jungbluth H, Davis MR, M\u00fcller C et al (2004) Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord 14:785\u2013790","journal-title":"Neuromuscul Disord"},{"key":"5472_CR32","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.nmd.2015.10.001","volume":"26","author":"J D\u00edaz-Manera","year":"2016","unstructured":"D\u00edaz-Manera J, Alejaldre A, Gonz\u00e1lez L et al (2016) Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes. Neuromuscul Disord 26:33\u201340","journal-title":"Neuromuscul Disord"},{"key":"5472_CR33","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1016\/j.nmd.2011.06.748","volume":"21","author":"RY Carlier","year":"2011","unstructured":"Carlier RY, Laforet P, Wary C et al (2011) Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: involvement patterns. Neuromuscul Disord 21:791\u2013799","journal-title":"Neuromuscul Disord"},{"key":"5472_CR34","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1148\/radiology.206.3.9494506","volume":"206","author":"S Lamer","year":"1998","unstructured":"Lamer S, Carlier RY, Pinard JM et al (1998) Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency. Radiology 206:811\u2013816","journal-title":"Radiology"},{"key":"5472_CR35","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1016\/j.nmd.2006.09.013","volume":"17","author":"J Schessl","year":"2007","unstructured":"Schessl J, Medne L, Hu Y et al (2007) MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement. Neuromuscul Disord 17:28\u201332","journal-title":"Neuromuscul Disord"},{"key":"5472_CR36","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1016\/j.nmd.2012.12.009","volume":"23","author":"M Catteruccia","year":"2013","unstructured":"Catteruccia M, Fattori F, Codemo V et al (2013) Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. Neuromuscul Disord 23:229\u2013238","journal-title":"Neuromuscul Disord"},{"key":"5472_CR37","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1016\/0960-8966(94)90028-0","volume":"4","author":"H Topaloglu","year":"1994","unstructured":"Topaloglu H, G\u00f6g\u00fcs S, Yalaz K, K\u00fcc\u00fckali T, Serdaroglu A (1994) Two siblings with nemaline myopathy presenting with rigid spine syndrome. Neuromuscul Disord 4:263\u2013267","journal-title":"Neuromuscul Disord"},{"key":"5472_CR38","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1016\/0960-8966(95)90039-X","volume":"5","author":"HB Sarnat","year":"1995","unstructured":"Sarnat HB (1995) Siblings with rigid spine syndrome and nemaline rod myopathy, a unique association. Neuromuscul Disord 5:351\u2013352","journal-title":"Neuromuscul Disord"},{"key":"5472_CR39","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1038\/ejhg.2014.169","volume":"23","author":"GL O\u2019Grady","year":"2015","unstructured":"O\u2019Grady GL, Best HA, Oates EC et al (2015) Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. Eur J Hum Genet 23:883\u2013886","journal-title":"Eur J Hum Genet"},{"key":"5472_CR40","doi-asserted-by":"publisher","first-page":"3175","DOI":"10.1093\/brain\/awp236","volume":"132","author":"FL Norwood","year":"2009","unstructured":"Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V (2009) Prevalence of genetic muscle disease in North England: in-depth analysis of a muscle clinic population. Brain 132:3175\u20133186","journal-title":"Brain"},{"key":"5472_CR41","doi-asserted-by":"publisher","first-page":"2121","DOI":"10.1016\/j.yexcr.2007.03.028","volume":"313","author":"HJ Worman","year":"2007","unstructured":"Worman HJ, Bonne G (2007) \u201cLaminopathies\u201d: a wide spectrum of human diseases. Exp Cell Res 313:2121\u20132133","journal-title":"Exp Cell Res"}],"container-title":["European Radiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00330-018-5472-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00330-018-5472-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00330-018-5472-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T19:07:40Z","timestamp":1558724860000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00330-018-5472-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,25]]},"references-count":41,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["5472"],"URL":"https:\/\/doi.org\/10.1007\/s00330-018-5472-5","relation":{},"ISSN":["0938-7994","1432-1084"],"issn-type":[{"value":"0938-7994","type":"print"},{"value":"1432-1084","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5,25]]},"assertion":[{"value":"10 January 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 April 2018","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 April 2018","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 May 2018","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The scientific guarantor of this publication is Mickael Tordjman","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Guarantor"}},{"value":"The authors of this manuscript declare no relationships with any companies whose products or services may be related to the subject matter of the article.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Nathaniel Bern kindly provided statistical advice for this manuscript. One of the authors has significant statistical expertise: Moustafa Biyoukar.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Statistics and biometry"}},{"value":"Written informed consent was obtained from all subjects (patients) in this study.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"Institutional review board approval was obtained.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"\u2022 retrospective\u2022 diagnostic or prognostic study\/observational\u2022 multicentre study","order":7,"name":"Ethics","group":{"name":"EthicsHeading","label":"Methodology"}}]}}