VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

Nivetha Ramachandran, Iulia Munteanu, Peixiang Wang, Alessandra Ruggieri, Jennifer J. Rilstone, Nyrie Israelian, Taline Naranian, Paul Paroutis, Ray Guo, Zhi Ping Ren, Ichizo Nishino, Brigitte Chabrol, Jean Francois Pellissier, Carlo Minetti, Bjarne Udd, Michel Fardeau, Chetankumar S. Tailor, Don J. Mahuran, John T. Kissel, Hannu KalimoNicolas Levy, Morris F. Manolson, Cameron A. Ackerley, Berge A. Minassian

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Medicine & Life Sciences