Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/341599
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dc.contributor.CRUESPUNIVERSIDADE ESTADUAL DE CAMPINASpt_BR
dc.contributor.authorunicampCoimbra Neto, Antônio Rodrigues-
dc.contributor.authorunicampFranca Junior, Marcondes Cavalcante-
dc.typeArtigopt_BR
dc.titleClinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophypt_BR
dc.contributor.authorWinckler, Pablo B.-
dc.contributor.authorda Silva, Andre M. S.-
dc.contributor.authorCoimbra Neto, Antonio R.-
dc.contributor.authorCarvalho, Elmano-
dc.contributor.authorCavalcanti, Eduardo B. U.-
dc.contributor.authorSobreira, Claudia F. R.-
dc.contributor.authorMarrone, Carlo D.-
dc.contributor.authorMachado-Costa, Marcela C.-
dc.contributor.authorCarvalho, Alzira A. S.-
dc.contributor.authorFeio, Raimunda H. F.-
dc.contributor.authorRodrigues, Cleonisio L.-
dc.contributor.authorGoncalves, Marcus V. M.-
dc.contributor.authorTenorio, Renata B.-
dc.contributor.authorMendonca, Rodrigo H.-
dc.contributor.authorCotta, Ana-
dc.contributor.authorPainn, Julia F. O.-
dc.contributor.authorCosta e Silva, Cynthia-
dc.contributor.authorCruz, Camila de Aquino-
dc.contributor.authorBena, Marjory I.-
dc.contributor.authorBetancur, Daniel F. A.-
dc.contributor.authorEl Husny, Antonette S.-
dc.contributor.authorde Souza, Isabel C. N.-
dc.contributor.authorDuarte, Regina C. B.-
dc.contributor.authorReed, Umbertina C.-
dc.contributor.authorChaves, Marcia L. F.-
dc.contributor.authorZanoteli, Edmar-
dc.contributor.authorFranca Jr., Marcondes C.-
dc.contributor.authorSaute, Jonas A.-
dc.subjectEpidemiologiapt_BR
dc.subject.otherlanguageEpidemiologypt_BR
dc.description.abstractLimb-girdle 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-R 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-R were reviewed from July 2017 to August 2018. Survival curves to major handicap for LGMD2A/LGMD-R1-calpain3-related, LGMD2B/LGMD-R2-dysferlin-related and sarcoglycanopathies were built and progressions according to sex and genotype were estimated. In 370 patients (305 families) with LGMD2/LGMD-R, most frequent subtypes were LGMD2A/LGMD-R1-calpain3-related and LGMD2B/LGMD-R2-dysferlin-related, each representing around 30% of families. Sarcoglycanopathies were the most frequent childhood-onset subtype, representing 21% of families. Five percent of families had LGMD2G/LGMD-R7-telethonin-related, an ultra-rare subtype worldwide. Females with LGMD2B/LGMD-R2-dysferlin-related had less severe progression to handicap than males and LGMD2A/LGMD-R1-calpain3-related 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-R in Brazil that might help on differential diagnosis, better patient care and guiding future collaborative clinical trials and natural history studies in the fieldpt_BR
dc.relation.ispartofClinical geneticspt_BR
dc.relation.ispartofabbreviationClin. genet.pt_BR
dc.publisher.cityHoboken, NJpt_BR
dc.publisher.countryEstados Unidospt_BR
dc.publisherWileypt_BR
dc.date.issued2019-
dc.date.monthofcirculationOct.pt_BR
dc.language.isoengpt_BR
dc.description.volume96pt_BR
dc.description.issuenumber4pt_BR
dc.description.firstpage341pt_BR
dc.description.lastpage353pt_BR
dc.rightsFechadopt_BR
dc.sourceWOSpt_BR
dc.identifier.issn0009-9163pt_BR
dc.identifier.eissn1399-0004pt_BR
dc.identifier.doi10.1111/cge.13597pt_BR
dc.identifier.urlhttps://onlinelibrary.wiley.com/doi/full/10.1111/cge.13597pt_BR
dc.date.available2020-05-18T14:09:29Z-
dc.date.accessioned2020-05-18T14:09:29Z-
dc.description.provenanceSubmitted by Mariana Aparecida Azevedo (mary1@unicamp.br) on 2020-05-18T14:09:29Z No. of bitstreams: 0en
dc.description.provenanceMade available in DSpace on 2020-05-18T14:09:29Z (GMT). No. of bitstreams: 0 Previous issue date: 2019en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/341599-
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.departmentDepartamento de Neurologiapt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.subject.keywordDisease modifierpt_BR
dc.subject.keywordLimb-girdlept_BR
dc.subject.keywordMuscular dystrophypt_BR
dc.subject.keywordNatural historypt_BR
dc.identifier.source000485291400007pt_BR
dc.creator.orcidsem informaçãopt_BR
dc.creator.orcid0000-0003-0898-2419pt_BR
dc.type.formArtigo originalpt_BR
dc.description.sponsorNoteThe authors are grateful to patients and their families for participationin this study and professionals who also attended these individuals,but were not directly involved in this research project. We also thankSanofi-Genzyme who supported genetic diagnosis investigations atsome centers. The study was funded by Fundo de Incentivo à Pes-quisa e Eventos-HCPA (Grant Number: 17-0340) and by researchgrant from PTC-Therapeutics. Bená MI received support fromConselho Nacional de Desenvolvimento Cientifico e Tecnológico(Grant Number: 134351/2015-0)pt_BR
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