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[<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=31282072&dopt=Abstract\" id=\"id2\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1002%2Fajmg.c.31721\" id=\"id3\">CrossRef<\/a>]","DOI":"10.1002\/ajmg.c.31721"},{"key":"ref=2","doi-asserted-by":"crossref","unstructured":"Bamshad\u00a0M, Van Heest\u00a0AE, Pleasure\u00a0D. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.2106%2FJBJS.I.00281\" id=\"id4\">Arthrogryposis: a review and update.<\/a> J Bone Joint Surg Am 2009; 91 (Suppl 4): 40\u20136. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19571066&dopt=Abstract\" id=\"id5\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.2106%2FJBJS.I.00281\" id=\"id6\">CrossRef<\/a>]","DOI":"10.2106\/JBJS.I.00281"},{"key":"ref=3","unstructured":"Linnet\u00a0KM, Balslev\u00a0T, M\u00f8ller-Madsen\u00a0B. Arthrogryposis multiplex congenita. Ugeskr L\u00e6ger 2015; 177: V12140712. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=26320355&dopt=Abstract\" id=\"id7\">PubMed<\/a>]"},{"key":"ref=4","unstructured":"Hall\u00a0JG, Kimber\u00a0E, van Bosse\u00a0HJP. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1097%2FBPO.0000000000000997\" id=\"id8\">Genetics and Classifications.<\/a> J Pediatr Orthop 2017; 37 (Suppl 1): S4\u20138. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=28594686&dopt=Abstract\" id=\"id9\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1097%2FBPO.0000000000000997\" id=\"id10\">CrossRef<\/a>]"},{"key":"ref=5","doi-asserted-by":"crossref","unstructured":"Nouraei\u00a0H, Sawatzky\u00a0B, MacGillivray\u00a0M et al. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1002%2Fajmg.a.38169\" id=\"id11\">Long-term functional and mobility outcomes for individuals with arthrogryposis multiplex congenita.<\/a> Am J Med Genet A 2017; 173: 1270\u20138. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=28374968&dopt=Abstract\" id=\"id12\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1002%2Fajmg.a.38169\" id=\"id13\">CrossRef<\/a>]","DOI":"10.1002\/ajmg.a.38169"},{"key":"ref=6","unstructured":"Dai\u00a0S, Dieterich\u00a0K, Jaeger\u00a0M et al. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1212%2FWNL.0000000000005418\" id=\"id14\">Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype.<\/a> Neurology 2018; 90: e1596\u2013604. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=29626181&dopt=Abstract\" id=\"id15\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1212%2FWNL.0000000000005418\" id=\"id16\">CrossRef<\/a>]"},{"key":"ref=7","unstructured":"S\u00f8rensen\u00a0IW, Prescott\u00a0T, F Rustad\u00a0C et al. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.4045%2Ftidsskr.19.0535\" id=\"id17\">Genpaneltesting.<\/a> Tidsskr Nor Legeforen 2020; 140. doi: 10.4045\/tidsskr.19.0535. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=32105034&dopt=Abstract\" id=\"id18\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.4045%2Ftidsskr.19.0535\" id=\"id19\">CrossRef<\/a>]"},{"key":"ref=8","unstructured":"Richards\u00a0S, Aziz\u00a0N, Bale\u00a0S et al. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1038%2Fgim.2015.30\" id=\"id20\">Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.<\/a> Genet Med 2015; 17: 405\u201324. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25741868&dopt=Abstract\" id=\"id21\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1038%2Fgim.2015.30\" id=\"id22\">CrossRef<\/a>]"},{"key":"ref=9","unstructured":"Houge\u00a0G, Laner\u00a0A, Cirak\u00a0S et al. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1038%2Fs41431-021-00903-z\" id=\"id23\">Stepwise ABC system for classification of any type of genetic variant.<\/a> Eur J Hum Genet 2021; 29. doi: 10.1038\/s41431-021-00903-z. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=33981013&dopt=Abstract\" id=\"id24\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1038%2Fs41431-021-00903-z\" id=\"id25\">CrossRef<\/a>]"},{"key":"ref=10","unstructured":"Foley AR, Mohassel P, Donkervoort S et al. Collagen VIRelated Dystrophies. I: Adam MP, Ardinger HH, Pagon RA et al., red. GeneReviews\u00ae. Seattle, WA: University of Washington, 1993\u20132021. <a target=\"xrefwindow\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1503\/\" id=\"id26\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1503\/<\/a> Lest 14.9.2021."},{"key":"ref=11","doi-asserted-by":"crossref","unstructured":"Peat\u00a0RA, Baker\u00a0NL, Jones\u00a0KJ et al. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1016%2Fj.nmd.2007.03.017\" id=\"id27\">Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.<\/a> Neuromuscul Disord 2007; 17: 547\u201357. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17537636&dopt=Abstract\" id=\"id28\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1016%2Fj.nmd.2007.03.017\" id=\"id29\">CrossRef<\/a>]","DOI":"10.1016\/j.nmd.2007.03.017"},{"key":"ref=12","unstructured":"Mercuri\u00a0E, Lampe\u00a0A, Allsop\u00a0J et al. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1016%2Fj.nmd.2005.01.004\" id=\"id30\">Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.<\/a> Neuromuscul Disord 2005; 15: 303\u201310. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15792870&dopt=Abstract\" id=\"id31\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1016%2Fj.nmd.2005.01.004\" id=\"id32\">CrossRef<\/a>]"},{"key":"ref=13","unstructured":"Salim\u00a0R, Dahlqvist\u00a0JR, Khawajazada\u00a0T et al. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1007%2Fs00415-020-09860-x\" id=\"id33\">Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy.<\/a> J Neurol 2020; 267: 2432\u201342. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=32363432&dopt=Abstract\" id=\"id34\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1007%2Fs00415-020-09860-x\" id=\"id35\">CrossRef<\/a>]"},{"key":"ref=14","unstructured":"Fu\u00a0J, Zheng\u00a0YM, Jin\u00a0SQ et al. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.4103%2F0366-6999.186638\" id=\"id36\">Target and sandwich signs in the thigh muscles have high diagnostic values for collagen VI-realted myopathies.<\/a> Chin Med J (Engl) 2016; 129: 1811\u20136. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=27453230&dopt=Abstract\" id=\"id37\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.4103%2F0366-6999.186638\" id=\"id38\">CrossRef<\/a>]"},{"key":"ref=15","unstructured":"Fossmo\u00a0HL, Holtebekk\u00a0E, Giltvedt\u00a0K et al. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.4045%2Ftidsskr.17.1024\" id=\"id39\">Fysisk trening hos voksne med arvelig muskelsykdom.<\/a> Tidsskr Nor Legeforen 2018; 138. doi: 10.4045\/tidsskr.17.1024. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=29947206&dopt=Abstract\" id=\"id40\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.4045%2Ftidsskr.17.1024\" id=\"id41\">CrossRef<\/a>]"},{"key":"ref=16","doi-asserted-by":"crossref","unstructured":"Vissing\u00a0CR, Hedermann\u00a0G, Vissing\u00a0J. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1002%2Fmus.26498\" id=\"id42\">Moderate-intensity aerobic exercise improves physical fitness in bethlem myopathy.<\/a> Muscle Nerve 2019; 60: 183\u20138. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=31026058&dopt=Abstract\" id=\"id43\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1002%2Fmus.26498\" id=\"id44\">CrossRef<\/a>]","DOI":"10.1002\/mus.26498"},{"key":"ref=17","unstructured":"Treningsr\u00e5d til voksne med muskelsykdom. Oslo\/Siggerud: Frambu kompetansesenter for sjeldne diagnoser, Enhet for medf\u00f8dte og arvelige nevromuskul\u00e6re tilstander og Nevromuskul\u00e6rt kompetansesenter, 2019. <a target=\"xrefwindow\" href=\"https:\/\/unn.no\/Documents\/Kompetansetjenester,%20-sentre%20og%20fagr%C3%A5d\/Nevromuskul%C3%A6rt%20kompetansesenter%20(NMK)\/Trenings%C3%A5d%20til%20voksne%20med%20muskelsykdom%20II.pdf\" id=\"id45\">https:\/\/unn.no\/Documents\/Kompetansetjenester,%20-sentre%20og%20fagr%C3%A5d\/Nevromuskul%C3%A6rt%20kompetansesenter%20(NMK)\/Trenings%C3%A5d%20til%20voksne%20med%20muskelsykdom%20II.pdf<\/a> Lest 14.9.2021."},{"key":"ref=18","unstructured":"Stray-Pedersen\u00a0A, Sorte\u00a0HS, Samarakoon\u00a0P et al. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1016%2Fj.jaci.2016.05.042\" id=\"id46\">Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.<\/a> J Allergy Clin Immunol 2017; 139: 232\u201345. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=27577878&dopt=Abstract\" id=\"id47\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1016%2Fj.jaci.2016.05.042\" id=\"id48\">CrossRef<\/a>]"},{"key":"ref=19","unstructured":"Bushby\u00a0KM, Collins\u00a0J, Hicks\u00a0D. <a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1007%2F978-94-007-7893-1_12\" id=\"id49\">Collagen type VI myopathies.<\/a> Adv Exp Med Biol 2014; 802: 185\u201399. [<a target=\"xrefwindow\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24443028&dopt=Abstract\" id=\"id50\">PubMed<\/a>][<a target=\"xrefwindow\" href=\"http:\/\/dx.doi.org\/10.1007%2F978-94-007-7893-1_12\" id=\"id51\">CrossRef<\/a>]"}],"container-title":["Tidsskrift for Den norske legeforening"],"original-title":["En kvinne i 50-\u00e5rene med langvarig muskelsvakhet"],"language":"no","deposited":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T14:16:30Z","timestamp":1781705790000},"score":1,"resource":{"primary":{"URL":"https:\/\/tidsskriftet.no\/2022\/01\/noe-laere-av\/en-kvinne-i-50-arene-med-langvarig-muskelsvakhet"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,7]]},"references-count":19,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,1,11]]}},"URL":"https:\/\/doi.org\/10.4045\/tidsskr.21.0038","relation":{},"ISSN":["0029-2001","0807-7096"],"issn-type":[{"value":"0029-2001","type":"print"},{"value":"0807-7096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,7]]}}}