Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

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Authors: Mridul Johari, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson, Marco Savarese, Manu Jokela, Annalaura Torella, Giulio Piluso, Edith Said, Norbert Vella, Marija Cauchi, Armelle Magot, Francesca Magri, Eleonora Mauri, Cornelia Kornblum, Jens Reimann, Tanya Stojkovic, Norma B. Romero, Helena Luque, Sanna Huovinen, Päivi Lahermo, Kati Donner, Giacomo Pietro Comi, Vincenzo Nigro, Peter Hackman, Bja

Journal title: Acta Neuropathologica

Journal publisher: Springer Nature

Published year: 2021

Published pages: 375–393

DOI identifier: 10.1007/s00401-021-02319-x

ISSN: 1432-0533