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https://observatorio.fm.usp.br/handle/OPI/34049
Title: | Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy |
Authors: | WINCKLER, Pablo B.; SILVA, Andre M. S. da; COIMBRA-NETO, Antonio R.; CARVALHO, Elmano; CAVALCANTI, Eduardo B. U.; SOBREIRA, Claudia F. R.; MARRONE, Carlo D.; MACHADO-COSTA, Marcela C.; CARVALHO, Alzira A. S.; FEIO, Raimunda H. F.; RODRIGUES, Cleonisio L.; GONCALVES, Marcus V. M.; TENORIO, Renata B.; MENDONCA, Rodrigo H.; COTTA, Ana; PAINN, Julia F. O.; SILVA, Cynthia Costa e; CRUZ, Camila de Aquino; I, Marjory Bena; BETANCUR, Daniel F. A.; HUSNY, Antonette S. El; SOUZA, Isabel C. N. de; DUARTE, Regina C. B.; REED, Umbertina C.; CHAVES, Marcia L. F.; ZANOTELI, Edmar; JR, Marcondes C. Franca; SAUTE, Jonas A. |
Citation: | CLINICAL GENETICS, v.96, n.4, p.341-353, 2019 |
Abstract: | Limb-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 field. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MNE Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - LIM/15 Artigos e Materiais de Revistas Científicas - LIM/45 |
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