{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:17Z","timestamp":1772160077859,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T00:00:00Z","timestamp":1721174400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Limb\u2010girdle muscular dystrophy type 2G\/R7 (LGMD2G\/R7) is an ultra\u2010rare condition initially identified within the Brazilian population. We aimed to expand clinical and genetic information about this disease, including its worldwide distribution. A multicenter historical cohort study was performed at 13 centers in Brazil in which data from index cases and their affected relatives from consecutive families with LGMD2G\/R7 were reviewed from July 2017 to August 2023. Additionally, a systematic literature review was conducted to identify case reports and series of the disease worldwide. Forty\u2010one LGMD2G\/R7 cases were described in the Brazilian cohort, being all subjects homozygous for the c.157C&gt;T\/(p.Gln53*) variant in\n                    <jats:italic>TCAP<\/jats:italic>\n                    . Survival curves showed that the median disease duration before individuals required walking aids was 21\u2009years. Notably, women exhibited a slower disease progression, requiring walking aids 13\u2009years later than men. LGMD2G\/R7 was frequently reported not only in Brazil but also in China and Bulgaria, with 119 cases identified globally, with possible founder effects in the Brazilian, Eastern European, and Asian populations. These findings are pivotal in raising awareness of LGMD2G\/R7, understanding its progression, and identifying potential modifiers. This can significantly contribute to the development of future natural history studies and clinical trials for this disease.\n                  <\/jats:p>","DOI":"10.1111\/cge.14589","type":"journal-article","created":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T03:05:37Z","timestamp":1721185537000},"page":"644-649","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and molecular characterization of limb\u2010girdle muscular dystrophy\n                    <scp>2G<\/scp>\n                    \/\n                    <scp>R7<\/scp>\n                    in a large cohort of Brazilian patients"],"prefix":"10.1111","volume":"106","author":[{"given":"Tobias","family":"Gaviraghi","sequence":"first","affiliation":[{"name":"Neurology Service Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Brazil"},{"name":"Graduate Program in Medicine, Medical Sciences Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo B. U.","family":"Cavalcanti","sequence":"additional","affiliation":[{"name":"Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulo Jos\u00e9","family":"Lorenzoni","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Interna, Divis\u00e3o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Hospital de Cl\u00ednicas Universidade Federal do Paran\u00e1  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2931-6589","authenticated-orcid":false,"given":"Ana","family":"Cotta","sequence":"additional","affiliation":[{"name":"Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o  Belo Horizonte Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulo V. S.","family":"de Souza","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9 D.","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Neurology Division Hospital Universit\u00e1rio Polydoro Ernani de S\u00e3o Thiago  Florian\u00f3polis Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria T.","family":"de Moraes","sequence":"additional","affiliation":[{"name":"Neurology and Neurophysiology Division Instituto de Neurologia de Curitiba\/Hospital\u2010Ecoville  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcos V. O.","family":"Marques","sequence":"additional","affiliation":[{"name":"Neurology Division Centro Integrado de Sa\u00fade  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karina C.","family":"Donis","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pablo B.","family":"Winckler","sequence":"additional","affiliation":[{"name":"Neurology Service Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia","family":"Costa e Silva","sequence":"additional","affiliation":[{"name":"Rede SARAH de Hospitais de Reabilita\u00e7\u00e3o  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wladimir B. V. R.","family":"Pinto","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cl\u00e1udia S. K.","family":"Kay","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Interna, Divis\u00e3o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Hospital de Cl\u00ednicas Universidade Federal do Paran\u00e1  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata D.","family":"Ducci","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Interna, Divis\u00e3o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Hospital de Cl\u00ednicas Universidade Federal do Paran\u00e1  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula R. V. P.","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Interna, Divis\u00e3o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Hospital de Cl\u00ednicas Universidade Federal do Paran\u00e1  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0778-5376","authenticated-orcid":false,"given":"Otto J. H.","family":"Fustes","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Interna, Divis\u00e3o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Hospital de Cl\u00ednicas Universidade Federal do Paran\u00e1  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9 M. S.","family":"da Silva","sequence":"additional","affiliation":[{"name":"Department of Neurology Faculdade de Medicina da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edmar","family":"Zanoteli","sequence":"additional","affiliation":[{"name":"Department of Neurology Faculdade de Medicina da Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0898-2419","authenticated-orcid":false,"suffix":"Jr","given":"Marcondes C.","family":"Fran\u00e7a","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculdade de Ci\u00eancias M\u00e9dicas Universidade Estadual de Campinas (UNICAMP)  Campinas Brazil"},{"name":"Graduate Program in Medical Physiopathology Universidade Estadual de Campinas (UNICAMP)  Campinas Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cl\u00e1udia F. 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muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene","volume":"29","author":"Negr\u00e3o L","year":"2010","journal-title":"Acta Myol"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.07.009"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-013-9987-6"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-018-0167-1"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-221517"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2022-250389"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12621"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000015"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.26044"},{"key":"e_1_2_9_25_1","first-page":"119","article-title":"Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular 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