Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy

• Main Authors: Stephanie A. Fernandes (Author), Camila F. Almeida (Author), Lucas S. Souza (Author), Monize Lazar (Author), Paula Onofre-Oliveira (Author), Guilherme L. Yamamoto (Author), Letícia Nogueira (Author), Letícia Y. Tasaki (Author), Rafaela R. Cardoso (Author), Rita C. M. Pavanello (Author), Helga C. A. Silva (Author), Merari F. R. Ferrari (Author), Anne Bigot (Author), Vincent Mouly (Author), Mariz Vainzof (Author), Annemieke Aartsma-Rus (Author), James Dowling (Author), Maaike van Putten (Author)
• Format: Book
• Published: The Company of Biologists, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...