{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T04:57:05Z","timestamp":1790657825738,"version":"4.1.0"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T00:00:00Z","timestamp":1790640000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T00:00:00Z","timestamp":1790640000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Appl Genetics"],"DOI":"10.1007\/s13353-026-01115-1","type":"journal-article","created":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T04:22:13Z","timestamp":1790655733000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rapid and reliable molecular diagnosis of oculopharyngeal muscular dystrophy: a cost-effective alternative for PABPN1 gene (GCN)n repeat analysis"],"prefix":"10.1007","author":[{"given":"M.","family":"Vital","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Salazar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Acordagoitia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"V\u00e1zquez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3080-5702","authenticated-orcid":false,"given":"Patricia","family":"Esper\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,9,29]]},"reference":[{"key":"1115_CR1","doi-asserted-by":"publisher","first-page":"1058","DOI":"10.1093\/hmg\/ddp569","volume":"19","author":"LH Apponi","year":"2009","unstructured":"Apponi LH, Leung SW, Williams KR, Valentini SR, Corbett AH, Pavlath GK (2009) Loss of nuclear poly(A)-binding protein 1 causes defects in myogenesis and mRNA biogenesis. Hum Mol Genet 19:1058\u20131065","journal-title":"Hum Mol Genet"},{"key":"1115_CR2","doi-asserted-by":"publisher","first-page":"596","DOI":"10.1212\/WNL.0b013e3181b388a3","volume":"73","author":"SC Blumen","year":"2009","unstructured":"Blumen SC, Bouchard JP, Brais B, Carasso RL, Paleacu D, Drory VE, Chantal S, Blumen N, Braverman I (2009) Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes. Neurology 73:596\u2013601","journal-title":"Neurology"},{"key":"1115_CR3","doi-asserted-by":"crossref","unstructured":"Brais B (2009) Oculopharyngeal muscular dystrophy: a polyalanine myopathy. Curr Neurol Neurosci Rep 9(1):76\u201382","DOI":"10.1007\/s11910-009-0012-y"},{"key":"1115_CR4","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1038\/ng0298-164","volume":"18","author":"B Brais","year":"1998","unstructured":"Brais B, Bouchard JP, Xie YG et al (1998) Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 18:164\u2013167","journal-title":"Nat Genet"},{"key":"1115_CR5","doi-asserted-by":"publisher","first-page":"2321","DOI":"10.1093\/oxfordjournals.hmg.a018924","volume":"9","author":"A Calado","year":"2000","unstructured":"Calado A, Tom\u00e9 FM, Brais B, Rouleau GA, K\u00fchn U, Wahle E, Carmo-Fonseca M (2000) Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(a) binding protein 2 aggregates which sequester poly(A) RNA. Hum Mol Genet 9:2321\u20132328","journal-title":"Hum Mol Genet"},{"issue":"1","key":"1115_CR6","doi-asserted-by":"publisher","first-page":"73","DOI":"10.3233\/JND-140045","volume":"2","author":"JC Deenen","year":"2015","unstructured":"Deenen JC, Horlings CG, Verschuuren JJ, Verbeek AL, van Engelen BG (2015) The Epidemiology of Neuromuscular Disorders: A Comprehensive Overview of the Literature. J Neuromuscul Dis 2(1):73\u201385","journal-title":"J Neuromuscul Dis"},{"issue":"1","key":"1115_CR7","first-page":"15","volume":"29","author":"C Gross","year":"2019","unstructured":"Gross C, Meyer NH, Lodmilla A, Meyer-Frie\u00dfem CH, Schoser B, Kley RA, Roos A (2019) Clinical utility of next-generation sequencing panels in the diagnosis of limb-girdle muscular dystrophies and other hereditary myopathies. Neuromuscul Disord 29(1):15\u201325","journal-title":"Neuromuscul Disord"},{"key":"1115_CR8","unstructured":"Loccus (n.d.) Sistema automatizado de eletroforese capilar GelBot HT., Loccus https:\/\/www.loccus.com.br\/sistema-automatizado-de-eletroforese-capilar-gelbot-ht\/"},{"issue":"5","key":"1115_CR9","doi-asserted-by":"publisher","first-page":"e23","DOI":"10.1136\/jmg.2005.037598","volume":"43","author":"DO Robinson","year":"2006","unstructured":"Robinson DO, Wills AJ, Hammans SR, Read SP, Sillibourne J (2006) Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation. J Med Genet 43(5):e23","journal-title":"J Med Genet"},{"issue":"9","key":"1115_CR10","doi-asserted-by":"publisher","first-page":"eabm5386","DOI":"10.1126\/sciadv.abm5386","volume":"8","author":"I Stevanovski","year":"2022","unstructured":"Stevanovski I, Chintalaphani SR, Gamaarachchi H, Ferguson JM, Pineda SS, Scriba CK, Tchan M, Fung V, Ng K, Cortese A, Houlden H, Dobson-Stone C, Fitzpatrick L, Halliday G, Ravenscroft G, Davis MR, Laing NG, Fellner A, Kennerson M, Kumar KR, Deveson IW (2022) Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing. Sci Adv 8(9):eabm5386","journal-title":"Sci Adv"},{"key":"1115_CR11","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1097\/00005053-191503000-00001","volume":"42","author":"EW Taylor","year":"1915","unstructured":"Taylor EW (1915) Progressive vagus-glossopharyngeal paralysis with ptosis: a contribution to the group of family diseases. J Nerv Ment Dis 42:129\u2013139","journal-title":"J Nerv Ment Dis"},{"key":"1115_CR12","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"C Trollet","year":"2001","unstructured":"Trollet C, Boulinguiez A, Roth F, Stojkovic T, Butler-Browne G, Evangelista T, Lacau St Guily J, Richard P (2001) Oculopharyngeal Muscular Dystrophy. In: Adam MP, Bick S, Mirzaa GM et al (eds) GeneReviews\u00ae [Internet]. University of Washington, Seattle, Seattle (WA), pp 1993\u20132026. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1126\/"},{"issue":"7","key":"1115_CR13","doi-asserted-by":"publisher","first-page":"4473","DOI":"10.1007\/s10072-022-05934-y","volume":"43","author":"PB Winckler","year":"2022","unstructured":"Winckler PB, Chwal BC, Dos Santos MAR, Burgu\u00eaz D, Polese-Bonatto M, Zanoteli E, Siebert M, Vairo FPE, Chaves MLF, Saute JAM (2022) Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies. Neurol Sci 43(7):4473\u20134481","journal-title":"Neurol Sci"},{"issue":"6","key":"1115_CR14","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1002\/jcla.20423","volume":"24","author":"P You","year":"2010","unstructured":"You P, Ma Q, Tao T (2010) Gene diagnosis of oculopharyngeal muscular dystrophy in a Chinese family by a GeneScan method. J Clin Lab Anal 24(6):422\u2013425","journal-title":"J Clin Lab Anal"}],"container-title":["Journal of Applied Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-026-01115-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13353-026-01115-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13353-026-01115-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T04:22:15Z","timestamp":1790655735000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13353-026-01115-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,29]]},"references-count":14,"alternative-id":["1115"],"URL":"https:\/\/doi.org\/10.1007\/s13353-026-01115-1","relation":{},"ISSN":["1234-1983","2190-3883"],"issn-type":[{"value":"1234-1983","type":"print"},{"value":"2190-3883","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,29]]},"assertion":[{"value":"2 March 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 July 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 September 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 September 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}]}}