Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy

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art_WINCKLER_Clinicogenetic_lessons_from_370_patients_with_autosomal_recessive_2019.PDF (2.18 MB)
Citações na Scopus
28
Tipo de produção
article
Data de publicação
2019
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
WILEY
Autores
WINCKLER, Pablo B.
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.
Citação
CLINICAL GENETICS, v.96, n.4, p.341-353, 2019
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
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.
Palavras-chave
disease modifier, epidemiology, limb-girdle, muscular dystrophy, natural history
URI
https://observatorio.fm.usp.br/handle/OPI/34049
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Coleções
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