| dc.contributor | https://orcid.org/0000-0002-9462-2294 | |
| dc.creator | Dourado Junior, Mário Emílio Teixeira | |
| dc.creator | Silva, André M. S. | |
| dc.creator | Coimbra-Neto, Antônio R.; et al. | |
| dc.date | 2023-07-27T18:17:20Z | |
| dc.date | 2023-07-27T18:17:20Z | |
| dc.date | 2019 | |
| dc.date.accessioned | 2023-09-04T12:21:44Z | |
| dc.date.available | 2023-09-04T12:21:44Z | |
| dc.identifier | DOURADO 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. | |
| dc.identifier | https://repositorio.ufrn.br/handle/123456789/54227 | |
| dc.identifier | https://doi.org/10.1002/acn3.50801 | |
| dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/8600411 | |
| dc.description | Objective: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. | |
| dc.format | application/pdf | |
| dc.language | en | |
| dc.publisher | Wiley | |
| dc.rights | https://creativecommons.org/licenses/by-nc-nd/4.0/ | |
| dc.rights | LOCKSS system has permission to collect, preserve, and serve this Archival Unit | |
| dc.subject | myopathy | |
| dc.subject | cohort of ANO5-related | |
| dc.subject | miopatia relacionada ao ANO5 | |
| dc.title | Clinical and molecular findings in a cohort of ANO5-related myopathy | |
| dc.type | article | |
