{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T03:17:44Z","timestamp":1789874264519,"version":"4.0.1"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,6,26]],"date-time":"2003-06-26T00:00:00Z","timestamp":1056585600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2003,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a Belgian family with autosomal dominant, late\u2010onset, distal myopathy with selective foot extensor muscle involvement of the lower legs. Linkage to the tibial muscular dystrophy (TMD) locus 2q31 was not evident at first because of incomplete disease penetrance in a 50\u2010year\u2010old asymptomatic family member. An abnormal tibialis anterior muscle biopsy established her subclinical status and linkage of the family to the TMD locus. Mutation analysis showed a disease\u2010specific, heterozygous point mutation in the last exon, Mex6, of the <jats:italic>titin<\/jats:italic> gene. This is the third mutation found in TMD and the second European family with TMD outside the Finnish population, suggesting that titinopathies may occur in various populations. Ann Neurol 2003<\/jats:p>","DOI":"10.1002\/ana.10647","type":"journal-article","created":{"date-parts":[[2003,7,28]],"date-time":"2003-07-28T11:14:16Z","timestamp":1059390856000},"page":"248-251","source":"Crossref","is-referenced-by-count":78,"title":["Tibial muscular dystrophy in a Belgian family"],"prefix":"10.1002","volume":"54","author":[{"given":"Peter Y. K.","family":"Van den Bergh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Bouquiaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Verellen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Marchand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Richard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Hackman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bjarne","family":"Udd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,7,25]]},"reference":[{"key":"e_1_2_5_2_2","first-page":"181","volume-title":"Neuromuscular disorders: clinical and molecular genetics","author":"Somer H","year":"1998"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-200110000-00003"},{"issue":"265","key":"e_1_2_5_4_2","first-page":"1","article-title":"Myopathia distalis tarda hereditaria","volume":"141","author":"Welander L","year":"1951","journal-title":"Acta Med Scand"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1993.00540060044015"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.24.2.127"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000041631.28557.C6"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(84)90053-4"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/109.1.31"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.2.323"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneurpsyc.1943.02290170025002"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/1765"},{"key":"e_1_2_5_13_2","first-page":"422","article-title":"Autosomal dominant distal myopathy: linkage to chromosome 14","volume":"56","author":"Laing NG","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1086\/302166"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.4.830"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-2697(02)00613-9"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/25.17.3389"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.6.1746"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1086\/301752"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1086\/342380"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(98)00099-6"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.10647","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.10647","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T14:03:07Z","timestamp":1697205787000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.10647"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,7,25]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,8]]}},"alternative-id":["10.1002\/ana.10647"],"URL":"https:\/\/doi.org\/10.1002\/ana.10647","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,7,25]]}}}