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Keywords: XMEA
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Journal Articles
In collection:
Neuromuscular Disease
Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
Journal:
Disease Models & Mechanisms
Dis Model Mech (2020) 13 (2): dmm041244.
Published: 10 January 2020
...-Rus; James Dowling; Maaike van Putten ABSTRACT 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...
Includes: Supplementary data
