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

OBJECTIVE: ANO5‐related myopathy is an important cause of limb‐girdle muscular dystrophy (LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts, and the burden of the disease worldwide is unclear. We provide a detailed characterization of a large Brazilian cohort of ANO5 pa...

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Detalles Bibliográficos
Autores principales: Silva, André M. S., Coimbra-Neto, Antônio R., Souza, Paulo Victor S., Winckler, Pablo B., Gonçalves, Marcus V. M., Cavalcanti, Eduardo B. U., Carvalho, Alzira A. D. S., Sobreira, Cláudia F. D. R., Camelo, Clara G., Mendonça, Rodrigo D. H., Estephan, Eduardo D. P., Reed, Umbertina C., Machado-Costa, Marcela C., Dourado-Junior, Mario E. T., Pereira, Vanessa C., Cruzeiro, Marcelo M., Helito, Paulo V. P., Aivazoglou, Laís U., Camargo, Leonardo V. D., Gomes, Hudson H., Camargo, Amaro J. S. D., Pinto, Wladimir B. V. D. R., Badia, Bruno M. L., Libardi, Luiz H., Yanagiura, Mario T., Oliveira, Acary S. B., Nucci, Anamarli, Saute, Jonas A. M., França-Junior, Marcondes C., Zanoteli, Edmar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6649425/
https://www.ncbi.nlm.nih.gov/pubmed/31353849
http://dx.doi.org/10.1002/acn3.50801

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