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Winckler, Pablo B.; da Silva, André M.S.; Coimbra‐Neto, Antônio R.; Carvalho, Elmano; Cavalcanti, Eduardo B.U.; Sobreira, Cláudia F.R.; Marrone, Carlo D.; Machado‐Costa, Marcela C.; Carvalho, Alzira A.S.; Feio, Raimunda H.F.; Rodrigues, Cleonísio L.; Gonçalves, Marcus V.M.; Tenório, Renata B.; Mendonça, Rodrigo H.; Cotta, Ana; Paim, Júlia F.O.; Costa e Silva, Cynthia; de Aquino Cruz, Camila; Bená, Marjory I.; Betancur, Daniel F.A.; El Husny, Antonette S.; de Souza, Isabel C.N.; Duarte, Regina C.B.; Reed, Umbertina C.; [...]

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

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  • Media type: E-Article
  • Title: Clinicogenetic lessons from 370 patients with autosomal recessive limb‐girdle muscular dystrophy
  • Contributor: Winckler, Pablo B.; da Silva, André M.S.; Coimbra‐Neto, Antônio R.; Carvalho, Elmano; Cavalcanti, Eduardo B.U.; Sobreira, Cláudia F.R.; Marrone, Carlo D.; Machado‐Costa, Marcela C.; Carvalho, Alzira A.S.; Feio, Raimunda H.F.; Rodrigues, Cleonísio L.; Gonçalves, Marcus V.M.; Tenório, Renata B.; Mendonça, Rodrigo H.; Cotta, Ana; Paim, Júlia F.O.; Costa e Silva, Cynthia; de Aquino Cruz, Camila; Bená, Marjory I.; Betancur, Daniel F.A.; El Husny, Antonette S.; de Souza, Isabel C.N.; Duarte, Regina C.B.; Reed, Umbertina C.; [...]
  • imprint: Wiley, 2019
  • Published in: Clinical Genetics
  • Language: English
  • DOI: 10.1111/cge.13597
  • ISSN: 0009-9163; 1399-0004
  • Keywords: Genetics (clinical) ; Genetics
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:p>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.</jats:p>