{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T10:26:50Z","timestamp":1781173610750,"version":"3.54.1"},"reference-count":43,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,7,15]],"date-time":"2019-07-15T00:00:00Z","timestamp":1563148800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["134351\/2015\u20100"],"award-info":[{"award-number":["134351\/2015\u20100"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013223","name":"PTC Therapeutics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013223","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Limb\u2010girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous disorders characterized by predominantly proximal muscle weakness. We aimed to characterize epidemiological, clinical and molecular data of patients with autosomal recessive LGMD2\/LGMD\u2010R in Brazil. A multicenter historical cohort study was performed at 13 centers, in which index cases and their affected relatives' data from consecutive families with genetic or pathological diagnosis of LGMD2\/LGMD\u2010R were reviewed from July 2017 to August 2018. Survival curves to major handicap for LGMD2A\/LGMD\u2010R1\u2010calpain3\u2010related, LGMD2B\/LGMD\u2010R2\u2010dysferlin\u2010related and sarcoglycanopathies were built and progressions according to sex and genotype were estimated. In 370 patients (305 families) with LGMD2\/LGMD\u2010R, most frequent subtypes were LGMD2A\/LGMD\u2010R1\u2010calpain3\u2010related and LGMD2B\/LGMD\u2010R2\u2010dysferlin\u2010related, each representing around 30% of families. Sarcoglycanopathies were the most frequent childhood\u2010onset subtype, representing 21% of families. Five percent of families had LGMD2G\/LGMD\u2010R7\u2010telethonin\u2010related, an ultra\u2010rare subtype worldwide. Females with LGMD2B\/LGMD\u2010R2\u2010dysferlin\u2010related had less severe progression to handicap than males and LGMD2A\/LGMD\u2010R1\u2010calpain3\u2010related patients with truncating variants had earlier disease onset and more severe progression to handicap than patients without truncating variants. We have provided paramount epidemiological data of LGMD2\/LGMD\u2010R in Brazil that might help on differential diagnosis, better patient care and guiding future collaborative clinical trials and natural history studies in the field.<\/jats:p>","DOI":"10.1111\/cge.13597","type":"journal-article","created":{"date-parts":[[2019,7,3]],"date-time":"2019-07-03T10:43:49Z","timestamp":1562150629000},"page":"341-353","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["Clinicogenetic lessons from 370 patients with autosomal recessive limb\u2010girdle muscular dystrophy"],"prefix":"10.1111","volume":"96","author":[{"given":"Pablo B.","family":"Winckler","sequence":"first","affiliation":[{"name":"Neurology Division Hospital de Cl\u00ednicas de Porto Alegre (HCPA)  Porto Alegre Brazil"},{"name":"Graduate Program in Medicine, Medical Sciences Universidade Federal do Rio Grande do Sul (UFRGS)  Porto Alegre 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