VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
Acta Neuropathologica (2013) - Comment
pubmed: 23315026  doi: 10.1007/s00401-012-1073-6  issn: 1432-0533  issn: 0001-6322 

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 Kalimo