{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T18:11:14Z","timestamp":1793988674504,"version":"4.8.0"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2009,3,23]],"date-time":"2009-03-23T00:00:00Z","timestamp":1237766400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2009,6]]},"abstract":"<jats:p>Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease associated with a partial deletion on chromosome 4q35. Few relevant investigations have been reported on its epidemiology and were essentially based on clinical diagnosis, having been performed before recognition of the molecular mutation. We report an epidemiological survey on FSHD patients, in which the diagnosis was obtained by combined clinical and molecular evaluation. The survey concerned the north\u2010east Italian province of Padova, an area of 871,190 inhabitants (1 January 2004). We identified 40 patients affected by FSHD based on clinical diagnosis. In 33 of them, the EcoRI fragment size in the 4q35 region ranged from 14 to 35\u2003kb. Four other patients belonging to the same family harbored a 38\u2010kb fragment. In these four cases, the relationship between the borderline deletion with the mild FSHD phenotype was corroborated by additional haplotype reconstruction and segregation analysis. Interestingly, the same mild facial\u2010sparing clinical pattern was apparent only in one other patient with an EcoRI fragment of 32\u2003kb, suggesting that this unusual FSHD phenotype may be due to very small 4q35 deletions. On the whole, estimating a prevalence rate of 44\u2003\u00d7\u200310<jats:sup>\u22126<\/jats:sup>, our survey confirmed FSHD as one of the most frequent neuromuscular disorders in Western populations.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2009.01158.x","type":"journal-article","created":{"date-parts":[[2009,3,23]],"date-time":"2009-03-23T04:37:57Z","timestamp":1237783077000},"page":"550-555","source":"Crossref","is-referenced-by-count":155,"title":["Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north\u2010east Italian population sample"],"prefix":"10.1111","volume":"75","author":[{"given":"ML","family":"Mostacciuolo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Pastorello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Vazza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Miorin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Angelini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Tomelleri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Galluzzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CP","family":"Trevisan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,6]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20522"},{"key":"e_1_2_6_3_2","first-page":"41","volume-title":"Facioscapulohumeral muscular dystrophy. Clinical medicine and molecular cell biology","author":"Padberg GW.","year":"2004"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2008.02314.x"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.12.755"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)92148-B"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-003-3285-3"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-003-1116-y"},{"key":"e_1_2_6_9_2","first-page":"401","article-title":"Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD)","volume":"53","author":"Gilbert JR","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(91)90039-U"},{"key":"e_1_2_6_11_2","first-page":"9","volume-title":"Diagnostic criteria for neuromuscular disorders","author":"Padberg GW","year":"1997"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1159\/000094248"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1159\/000107431"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(98)00116-3"},{"key":"e_1_2_6_15_2","first-page":"205","article-title":"Progressive Muskeldytrophie. VIII. Haufigkeit, Klinik und Genetik der Typen I und II","volume":"96","author":"Moser H","year":"1966","journal-title":"Schweiz Med Wochenschr"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9681(58)90002-X"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281062"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.590508.x"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.1.29"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2003.07.001"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980501)77:2<155::AID-AJMG9>3.0.CO;2-R"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1086\/302730"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.10.1927"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2009.01158.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2009.01158.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T02:05:47Z","timestamp":1696903547000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2009.01158.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,6]]},"references-count":22,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2009,6]]}},"alternative-id":["10.1111\/j.1399-0004.2009.01158.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2009.01158.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,6]]}}}