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Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
X-linked myopathy with excessive autophagy (XMEA) is a genetic disease associated with weakness of the proximal muscles. It is caused by mutations in the VMA21 gene, coding for a chaperone that functions in the vacuolar ATPase (v-ATPase) assembly. Mutations associated with lower content of assembled...
Autores principales: | Fernandes, Stephanie A., Almeida, Camila F., Souza, Lucas S., Lazar, Monize, Onofre-Oliveira, Paula, Yamamoto, Guilherme L., Nogueira, Letícia, Tasaki, Letícia Y., Cardoso, Rafaela R., Pavanello, Rita C. M., Silva, Helga C. A., Ferrari, Merari F. R., Bigot, Anne, Mouly, Vincent, Vainzof, Mariz |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Ltd
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6994946/ https://www.ncbi.nlm.nih.gov/pubmed/31826868 http://dx.doi.org/10.1242/dmm.041244 |
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