Clinical and molecular findings in a cohort of ANO5-related myopathy

dc.contributor.authorDourado Junior, Mário Emílio Teixeira
dc.contributor.authorSilva, André M. S.
dc.contributor.authorCoimbra-Neto, Antônio R.; et al.
dc.contributor.authorIDhttps://orcid.org/0000-0002-9462-2294pt_BR
dc.date.accessioned2023-07-27T18:17:20Z
dc.date.available2023-07-27T18:17:20Z
dc.date.issued2019
dc.description.resumoObjective:ANO5-related myopathy is an important cause of limb-girdle muscu-lar dystrophy (LGMD) and hyperCKemia. The main descriptions have emergedfrom European cohorts, and the burden of the disease worldwide is unclear. Weprovide a detailed characterization of a large Brazilian cohort fANO5patients.Methods: A national cross-sectional study was conducted to describe clinical,histopathological, radiological, and molecular features of patients carrying reces-sive variants inANO5. Correlation of clinical and genetic characteristics with dif-ferent phenotypes was studied.Results: Thirty-seven patients from 34 nonrelatedfamilies with recessive mutations ofANO5were identified. The most commonphenotype was LGMD, observed in 25 (67.5%) patients, followed by pseu-dometabolic presentation in 7 (18.9%) patients, isolated asymptomatic hyperCK-emia in 4 (10.8%) patients, and distal myopathy in a single patient. Nine patientspresented axial involvement, including one patient with isolated axial weakness.The most affected muscles according to MRI were the semimembranosus and gas-trocnemius, but paraspinal and abdominal muscles, when studied, were involved in most patients. Fourteen variants inANO5were identified, and the c.191dupAwas present in 19 (56%) families. Sex, years of disease, and the presence of loss-of-function variants were not associated with specific phenotypes.Interpretation:We present the largest series of anoctaminopathy outside Europe. The most com-mon European founder mutation c.191dupA was very frequent in our population.Gender, disease duration, and genotype did not determine the phenotype.pt_BR
dc.identifier.citationDOURADO JUNIOR, Mário Emílio Teixeira, et al. Clinical and molecular findings in a cohort of ANO5 ‐related myopathy. Annals Of Clinical And Translational Neurology, [S.L.], v. 6, n. 7, p. 1225-1238, 11 jun. 2019. Wiley. http://dx.doi.org/10.1002/acn3.50801. Disponível em: https://onlinelibrary.wiley.com/doi/10.1002/acn3.50801. Acesso em: 18 jul. 2023.pt_BR
dc.identifier.doihttps://doi.org/10.1002/acn3.50801
dc.identifier.urihttps://repositorio.ufrn.br/handle/123456789/54227
dc.languageenpt_BR
dc.publisherWileypt_BR
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectmyopathypt_BR
dc.subjectcohort of ANO5-relatedpt_BR
dc.subjectmiopatia relacionada ao ANO5pt_BR
dc.titleClinical and molecular findings in a cohort of ANO5-related myopathypt_BR
dc.typearticlept_BR

Arquivos

Pacote Original

Agora exibindo 1 - 1 de 1
Nenhuma Miniatura disponível
Nome:
ClinicalMolecularFindings_DouradoJr_2019.pdf
Tamanho:
1.73 MB
Formato:
Adobe Portable Document Format
Nenhuma Miniatura disponível
Baixar

Licença do Pacote

Agora exibindo 1 - 1 de 1
Nenhuma Miniatura disponível
Nome:
license.txt
Tamanho:
1.45 KB
Formato:
Item-specific license agreed upon to submission
Nenhuma Miniatura disponível
Baixar