{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T19:26:11Z","timestamp":1770665171415,"version":"3.49.0"},"reference-count":21,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Chemistry and Laboratory Medicine"],"published-print":{"date-parts":[[2010,10,1]]},"abstract":"Abstract<\/jats:title>\n \n Background:<\/jats:bold> Filamin myopathy is a neuromuscular disorder manifesting with predominantly limb-girdle muscle weakness and in many patients with diaphragm paralysis and cardiomyopathy, caused by mutations in the filamin C (FLNC<\/jats:italic>) gene. Molecular diagnosis of filamin myopathy based on direct DNA sequencing of coding exons is compromised by the presence of a high homology pseudogene (pseFLNC<\/jats:italic>) located approximately 53.6 kb downstream of the functional FLNC<\/jats:italic> gene on chromosome 7q.<\/jats:p>\n \n Methods:<\/jats:bold> Molecular cloning, RT-PCR and real-time PCR methods were used to detect sequence differences between the FLNC<\/jats:italic> and pseFLNC<\/jats:italic> that are implicated in known or potential molecular diagnostic errors. Overall, 50 patients with a phenotype resembling filamin myopathy have been screened for mutations in FLNC<\/jats:italic>.<\/jats:p>\n \n Results:<\/jats:bold>\n FLNC<\/jats:italic> sequence inconsistencies caused by the interference from pseFLNC<\/jats:italic> were identified and diagnostic errors involving, in particular, the detection of the most frequent disease-causing FLNC<\/jats:italic> p.W2710X mutation resolved. Mismatches between the FLNC<\/jats:italic> and pseFLNC<\/jats:italic> sequences were tabulated for future use.<\/jats:p>\n \n Conclusions<\/jats:bold>: We devise a strategy that allows one to discern mutations occurring in the functional FLNC<\/jats:italic> from those harbored in pseFLNC<\/jats:italic>, thus preventing possible complications in future research and patient genetic testing.<\/jats:p>\n Clin Chem Lab Med 2010;48:1409\u201314.<\/jats:p>","DOI":"10.1515\/cclm.2010.272","type":"journal-article","created":{"date-parts":[[2010,6,28]],"date-time":"2010-06-28T06:20:23Z","timestamp":1277706023000},"page":"1409-1414","source":"Crossref","is-referenced-by-count":14,"title":["DNA sequencing errors in molecular diagnostics of filamin myopathy"],"prefix":"10.1515","volume":"48","author":[{"given":"Zagaa","family":"Odgerel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter F.M.","family":"van der Ven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter O.","family":"F\u00fcrst","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell Biology, Institute of Cell Biology, University of Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lev G.","family":"Goldfarb","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2010,6,28]]},"reference":[{"key":"p_5","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e32830a752b"},{"key":"p_6","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.151.2.235"},{"key":"p_7","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M007493200"},{"key":"p_8","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.02484"},{"key":"p_9","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2006.03.015"},{"key":"p_10","doi-asserted-by":"publisher","DOI":"10.1002\/cm.20249"},{"key":"p_11","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.148.1.115"},{"key":"p_12","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2006.05.006"},{"key":"p_13","doi-asserted-by":"publisher","DOI":"10.1038\/35052082"},{"key":"p_14","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1104-1034"},{"key":"p_15","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00243-06"},{"key":"p_16","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000414"},{"key":"p_17","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1998.9506"},{"key":"p_18","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-4889(01)00072-6"},{"key":"p_19","doi-asserted-by":"publisher","DOI":"10.1021\/bi026501+"},{"key":"p_20","doi-asserted-by":"publisher","DOI":"10.1086\/431959"},{"key":"p_21","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm085"},{"key":"p_22","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.08.003"},{"key":"p_23","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.04.008"},{"key":"p_25","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm271"},{"key":"p_26","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20318"}],"container-title":["cclm"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.2010.272\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.2010.272\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,7]],"date-time":"2023-04-07T05:05:26Z","timestamp":1680843926000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.2010.272\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,28]]},"references-count":21,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2010,7,27]]},"published-print":{"date-parts":[[2010,10,1]]}},"alternative-id":["10.1515\/CCLM.2010.272"],"URL":"https:\/\/doi.org\/10.1515\/cclm.2010.272","relation":{},"ISSN":["1437-4331","1434-6621"],"issn-type":[{"value":"1437-4331","type":"electronic"},{"value":"1434-6621","type":"print"}],"subject":[],"published":{"date-parts":[[2010,6,28]]}}}