{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T09:02:03Z","timestamp":1780563723127,"version":"3.54.1"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>\n                  <jats:bold>Background:<\/jats:bold> Neuromuscular disease is a broad term that encompasses many diseases that either directly, via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairs muscle function. Here we report the experience of our group in the counselling and molecular prenatal diagnosis of three inherited neuromuscular diseases, i.e., Duchenne\/Becker muscular dystrophy (DMD\/BMD), myotonic dystrophy type 1 (DM1), spinal muscular atrophy (SMA).<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> We performed a total of 83 DMD\/BMD, 15 DM1 and 54 SMA prenatal diagnoses using a combination of technologies for either direct or linkage diagnosis.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> We identified 16, 5 and 10 affected foetuses, respectively. The improvement of analytical procedures in recent years has increased the mutation detection rate and reduced the analytical time.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> Due to the complexity of the experimental procedures and the high, specific professional expertise required for both laboratory activities and the related counselling, these types of analyses should be preferentially performed in reference molecular diagnostic centres.<\/jats:p>","DOI":"10.1515\/cclm-2013-0209","type":"journal-article","created":{"date-parts":[[2013,5,30]],"date-time":"2013-05-30T20:39:11Z","timestamp":1369946351000},"page":"2239-2245","source":"Crossref","is-referenced-by-count":17,"title":["Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne\/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy"],"prefix":"10.1515","volume":"51","author":[{"given":"Gabriella","family":"Esposito","sequence":"first","affiliation":[{"name":"Ceinge-Biotecnologie Avanzate scarl , Naples , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Ruggiero","sequence":"additional","affiliation":[{"name":"Ceinge-Biotecnologie Avanzate scarl , Naples , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Savarese","sequence":"additional","affiliation":[{"name":"Ceinge-Biotecnologie Avanzate scarl , Naples , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Savarese","sequence":"additional","affiliation":[{"name":"Ceinge-Biotecnologie Avanzate scarl , Naples , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Roberta","family":"Tremolaterra","sequence":"additional","affiliation":[{"name":"Ceinge-Biotecnologie Avanzate scarl , Naples , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Salvatore","sequence":"additional","affiliation":[{"name":"Ceinge-Biotecnologie Avanzate scarl , Naples , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Carsana","sequence":"additional","affiliation":[{"name":"Ceinge-Biotecnologie Avanzate scarl , Naples , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2013,5,23]]},"reference":[{"key":"2022011513095658462_j_cclm-2013-0209_ref_001","doi-asserted-by":"crossref","unstructured":"Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90\u20135.338444010.1016\/0888-7543(88)90113-9","DOI":"10.1016\/0888-7543(88)90113-9"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_002","doi-asserted-by":"crossref","unstructured":"Musova Z, Mazanec R, Krepelova A, Ehler E, Vales J, Jaklova R, et al. Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene. Am J Med Genet 2009;149A: 1365\u201374.10.1002\/ajmg.a.32987http:\/\/gateway.webofknowledge.com\/gateway\/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000267770000001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=b7bc2757938ac7a7a821505f8243d9f3","DOI":"10.1002\/ajmg.a.32987"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_003","doi-asserted-by":"crossref","unstructured":"Lefebvre S, B\u00fcrglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155\u201365.10.1016\/0092-8674(95)90460-37813012","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_004","doi-asserted-by":"crossref","unstructured":"Burghes AH. When is a deletion not a deletion? When it is converted. (Editorial). Am J Hum Genet 1997;61:9\u201315.924597710.1086\/513913","DOI":"10.1086\/513913"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_005","doi-asserted-by":"crossref","unstructured":"Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 1997;61:40\u201350.924598310.1086\/513886","DOI":"10.1086\/513886"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_006","doi-asserted-by":"crossref","unstructured":"Di Donato CJ, Chen XN, Noya D, Korenberg JR, Nadeau JH, Simard LR. Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene. Genome Res 1997;7: 339\u201352.","DOI":"10.1101\/gr.7.4.339"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_007","doi-asserted-by":"crossref","unstructured":"Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995;80:167\u201378.10.1016\/0092-8674(95)90461-17813013","DOI":"10.1016\/0092-8674(95)90461-1"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_008","doi-asserted-by":"crossref","unstructured":"Wirth B. An update on the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 2000;15:228\u201337.10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-910679938","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_009","doi-asserted-by":"crossref","unstructured":"Maruotti GM, Frisso G, Calcagno G, Fortunato G, Castaldo G, Martinelli P, et al. Prenatal diagnosis of inherited diseases: the 20 years\u2019 experience of an Italian Regional Reference Centre. Clin Chem Lab Med 2013;51:2211\u20137.","DOI":"10.1515\/cclm-2013-0194"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_010","doi-asserted-by":"crossref","unstructured":"Carsana A, Frisso G, Tremolaterra MR, Lanzillo R, Vitale DF, Santoro L, et al. Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity. Ann Hum Genet 2005;69:253\u20139.10.1046\/J.1469-1809.2005.00160.x15845029","DOI":"10.1046\/J.1469-1809.2005.00160.x"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_011","doi-asserted-by":"crossref","unstructured":"Pastore L, Caporaso MG, Frisso G, Orsini A, Santoro L, Sacchetti L, et al. A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker musculardystrophy deletion carriers and normal females. Mol Cell Probes 1996;10:129\u201337.10.1006\/mcpr.1996.0018","DOI":"10.1006\/mcpr.1996.0018"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_012","doi-asserted-by":"crossref","unstructured":"Frisso G, Carsana A, Tinto N, Calcagno G, Salvatore F, Sacchetti L. Direct detection of exon deletions\/duplications in female carriers of and male patients with Duchenne\/Becker muscular dystrophy. Clin Chem 2004;50:1435\u20138.1527735510.1373\/clinchem.2004.033795","DOI":"10.1373\/clinchem.2004.033795"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_013","doi-asserted-by":"crossref","unstructured":"Carsana A, Frisso G, Tremolaterra MR, Ricci E, De Rasmo D, Salvatore F. A larger spectrum of intragenic short tandem repeats improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from southern Italy. J Mol Diagn 2007;9:64\u20139.10.2353\/jmoldx.2007.060056http:\/\/gateway.webofknowledge.com\/gateway\/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000243898200009&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=b7bc2757938ac7a7a821505f8243d9f3","DOI":"10.2353\/jmoldx.2007.060056"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_014","doi-asserted-by":"crossref","unstructured":"Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3\u2019 end of a transcript encoding a protein kinase family member. Cell 1992;68:799\u2013808.10.1016\/0092-8674(92)90154-51310900","DOI":"10.1016\/0092-8674(92)90154-5"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_015","doi-asserted-by":"crossref","unstructured":"van der Steege G, Grootscholten P, van der Vlies P, Draaijers TG, Osinga J, Cobben JM, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345:985\u20136.10.1016\/S0140-6736(95)90732-7","DOI":"10.1016\/S0140-6736(95)90732-7"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_016","doi-asserted-by":"crossref","unstructured":"Helderman-van den Enden AT, de Jong R, den Dunnen JT, Houwing-Duistermaat JJ, Kneppers AL, Ginjaar HB, et al. Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy. Clin Genet 2009;75:465\u201372.http:\/\/gateway.webofknowledge.com\/gateway\/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000265708200009&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=b7bc2757938ac7a7a821505f8243d9f3","DOI":"10.1111\/j.1399-0004.2009.01173.x"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_017","doi-asserted-by":"crossref","unstructured":"Verpoest W, Seneca S, De Rademaeker M, Sermon K, De Rycke M, De Vos M, et al. The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract. J Assist Reprod Genet 2010;27:327\u201333.10.1007\/s10815-010-9392-9http:\/\/gateway.webofknowledge.com\/gateway\/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000280074700010&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=b7bc2757938ac7a7a821505f8243d9f3","DOI":"10.1007\/s10815-010-9392-9"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_018","doi-asserted-by":"crossref","unstructured":"Rudnik-Sch\u00f6neborn S, Zerres K. Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature. Eur J Obstet Gynecol Reprod Biol 2004;114:44\u201353.","DOI":"10.1016\/j.ejogrb.2003.11.025"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_019","doi-asserted-by":"crossref","unstructured":"Vazquez JA, Pinies JA, Martul P, De los Rios A, Gatzambide S, Busturia MA. Hypothalamic-pituitary-testicular function in 70 patients with myotonic dystrophy. J Endocrinol Invest 1990;13:375\u20139.","DOI":"10.1007\/BF03350681"},{"key":"2022011513095658462_j_cclm-2013-0209_ref_020","unstructured":"Ulloa-Aguirre A, Larrea F, Shkurovich M. Hypothalamic hypogonadism in myotonic dystrophy. Obstet Gynecol 1981;57:67S\u20139S."},{"key":"2022011513095658462_j_cclm-2013-0209_ref_021","unstructured":"Roy R, Declos M, Bouchard G, Mathieu J. The reproduction of families affected by Steinert\u2019s dystrophy in Saguenay (Quebec), 1885\u20131971: demographic parameters. Genus 1989;45:65\u201382."},{"key":"2022011513095658462_j_cclm-2013-0209_ref_022","doi-asserted-by":"crossref","unstructured":"Carsana A, Frisso G, Intrieri M, Tremolaterra MR, Savarese G, Scapagnini G, et al. A 15-year molecular analysis of Duchenne\/Becker muscular dystrophy: genetic features in a large cohort. Front Biosci 2010;E2:547\u201358.10.2741\/e113","DOI":"10.2741\/e113"}],"container-title":["Clinical Chemistry and Laboratory Medicine (CCLM)"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2013-0209\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2013-0209\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,15]],"date-time":"2022-01-15T13:11:47Z","timestamp":1642252307000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/cclm-2013-0209\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,23]]},"references-count":22,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2013,5,23]]},"published-print":{"date-parts":[[2013,12,1]]}},"alternative-id":["10.1515\/cclm-2013-0209"],"URL":"https:\/\/doi.org\/10.1515\/cclm-2013-0209","relation":{},"ISSN":["1437-4331","1434-6621"],"issn-type":[{"value":"1437-4331","type":"electronic"},{"value":"1434-6621","type":"print"}],"subject":[],"published":{"date-parts":[[2013,5,23]]}}}