{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T12:16:02Z","timestamp":1769602562909,"version":"3.49.0"},"reference-count":85,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,11,23]],"date-time":"2018-11-23T00:00:00Z","timestamp":1542931200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100008340","name":"Elsass Fonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008340","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Muscle contractures are a common complication to cerebral palsy (CP). The purpose of this study was to evaluate whether individuals with CP carry specific gene variants of important structural genes that might explain the severity of muscle contractures. Next\u2010generation\u2010sequencing (NGS) of 96 candidate genes associated with muscle structure and metabolism were analyzed in 43 individuals with CP (Gross Motor Function classification system [GMFCS] I, <jats:italic>n<\/jats:italic>=10; GMFCS II, <jats:italic>n<\/jats:italic>=14; GMFCS III, <jats:italic>n<\/jats:italic>=19) and four control participants. In silico analysis of the identified variants was performed. The variants were classified into four categories ranging from likely benign (VUS0) to highly likely functional effect (VUS3). All individuals with CP were classified and grouped according to their GMFCS level: Statistical comparisons were made between GMFCS groups. Kruskal\u2010Wallis tests showed significantly more VUS2 variants in the genes COL4 (GMFCS I\u2013III; 1, 1, 5, respectively [<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.04]), COL5 (GMFCS I\u2013III; 1, 1, 5 [<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.04]), COL6 (GMFCS I\u2013III; 0, 4, 7 [<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.003]), and COL9 (GMFCS I\u2013III; 1, 1, 5 [<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.04]), in individuals with CP within GMFCS Level III when compared to the other GMFCS levels. Furthermore, significantly more VUS3 variants in COL6 (GMFCS I\u2013III; 0, 5, 2 [<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.01]) and COL7 (GMFCS I\u2013III; 0, 3, 0 [<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.04]) were identified in the GMFCS II level when compared to the other GMFCS levels. The present results highlight several candidate gene variants in different collagen types with likely functional effects in individuals with CP.<\/jats:p>","DOI":"10.1002\/ajmg.b.32693","type":"journal-article","created":{"date-parts":[[2018,11,23]],"date-time":"2018-11-23T09:31:01Z","timestamp":1542965461000},"page":"12-24","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Sequence variants in muscle tissue\u2010related genes may determine the severity of muscle contractures in cerebral palsy"],"prefix":"10.1002","volume":"180","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9977-094X","authenticated-orcid":false,"given":"Jessica","family":"Pingel","sequence":"first","affiliation":[{"name":"Department of Neuroscience and Pharmacology, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeppe Dyrberg","family":"Andersen","sequence":"additional","affiliation":[{"name":"Department of Forensic Medicine, Section of Forensic Genetics, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofie Lindgren","family":"Christiansen","sequence":"additional","affiliation":[{"name":"Department of Forensic Medicine, Section of Forensic Genetics, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claus","family":"B\u00f8rsting","sequence":"additional","affiliation":[{"name":"Department of Forensic Medicine, Section of Forensic Genetics, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Morling","sequence":"additional","affiliation":[{"name":"Department of Forensic Medicine, Section of Forensic Genetics, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jakob","family":"Lorentzen","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Pharmacology, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"},{"name":"Helene Elsass Center  Charlottenlund Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henrik","family":"Kirk","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Pharmacology, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"},{"name":"Helene Elsass Center  Charlottenlund Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon","family":"Doessing","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Copenhagen University Hospital Hvidovre  Hvidovre Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Copenhagen University Hospital Hvidovre  Hvidovre Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jens Bo","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Pharmacology, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"},{"name":"Helene Elsass Center  Charlottenlund Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,11,23]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2012.07.023"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181c3fd12"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/21622965.2017.1312402"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2017.10.006"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2011.03913.x"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03686.x"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12723"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/861617"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2011.81"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.3.1212"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10066"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm763"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.3109\/17518423.2011.629633"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fcl.2009.08.002"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gaitpost.2016.11.031"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0838.2009.00915.x"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1152\/japplphysiol.00137.2013"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36907"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-307245"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10247"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1152\/jn.00508.2017"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.32098\/mltj.01.2013.07"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2015.02.005"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2015.08.016"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2015.03.042"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1109418"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa053727"},{"key":"e_1_2_12_29_1","article-title":"Cerebral palsy","volume":"2","author":"Graham H. K.","year":"2016","journal-title":"Nature Reviews Disease Primers"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-017-2475-1"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37527"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12950"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00414-014-1105-y"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.1272\/jnms.72.242"},{"key":"e_1_2_12_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23866"},{"key":"e_1_2_12_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.022"},{"key":"e_1_2_12_37_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"e_1_2_12_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_12_39_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2002.002311"},{"key":"e_1_2_12_40_1","volume-title":"GeneReviews\u00ae","author":"Lampe A. K.","year":"1993"},{"key":"e_1_2_12_41_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_12_42_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.114.301286"},{"key":"e_1_2_12_43_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2377-4-20"},{"key":"e_1_2_12_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-94-007-7893-1_9"},{"key":"e_1_2_12_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.44"},{"key":"e_1_2_12_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/jor.22719"},{"key":"e_1_2_12_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pmr.2014.09.005"},{"key":"e_1_2_12_48_1","doi-asserted-by":"publisher","DOI":"10.3109\/01942638.2011.644032"},{"key":"e_1_2_12_49_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13016"},{"key":"e_1_2_12_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clp.2006.03.001"},{"key":"e_1_2_12_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.11.006"},{"key":"e_1_2_12_52_1","doi-asserted-by":"publisher","DOI":"10.1086\/506256"},{"key":"e_1_2_12_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80892-3"},{"key":"e_1_2_12_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(98)01208-0"},{"key":"e_1_2_12_55_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176601"},{"key":"e_1_2_12_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jjcc.2015.09.003"},{"key":"e_1_2_12_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ultrasmedbio.2017.08.929"},{"key":"e_1_2_12_58_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8949"},{"key":"e_1_2_12_59_1","doi-asserted-by":"publisher","DOI":"10.1113\/JP272767"},{"key":"e_1_2_12_60_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33659"},{"key":"e_1_2_12_61_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq033"},{"key":"e_1_2_12_62_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31288"},{"key":"e_1_2_12_63_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1003757"},{"key":"e_1_2_12_64_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0004-9514(14)60183-5"},{"key":"e_1_2_12_65_1","doi-asserted-by":"publisher","DOI":"10.3109\/09638288.2014.935492"},{"key":"e_1_2_12_66_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_67_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-58"},{"key":"e_1_2_12_68_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0070288"},{"key":"e_1_2_12_69_1","first-page":"8","article-title":"A report: The definition and classification of cerebral palsy April 2006","volume":"109","author":"Rosenbaum P.","year":"2007","journal-title":"Developmental Medicine and Child Neurology. Supplement"},{"key":"e_1_2_12_70_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2008.02045.x"},{"key":"e_1_2_12_71_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2002.tb00779.x"},{"key":"e_1_2_12_72_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2010.203364"},{"key":"e_1_2_12_73_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1997.tb18355.x"},{"key":"e_1_2_12_74_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.3804205"},{"key":"e_1_2_12_75_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms13033245"},{"key":"e_1_2_12_76_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20401"},{"key":"e_1_2_12_77_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1325116"},{"key":"e_1_2_12_78_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-29"},{"key":"e_1_2_12_79_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000070112.80711.3D"},{"key":"e_1_2_12_80_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.016"},{"key":"e_1_2_12_81_1","doi-asserted-by":"publisher","DOI":"10.3389\/fncom.2017.00030"},{"key":"e_1_2_12_82_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13729"},{"key":"e_1_2_12_83_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12124"},{"key":"e_1_2_12_84_1","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4165(90)90108-9"},{"key":"e_1_2_12_85_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1994.tb11899.x"},{"key":"e_1_2_12_86_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.092981.109"}],"container-title":["American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.b.32693","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.32693","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T14:54:29Z","timestamp":1694789669000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.32693"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,23]]},"references-count":85,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["10.1002\/ajmg.b.32693"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.32693","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11,23]]},"assertion":[{"value":"2018-02-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-09-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-11-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}