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

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 HuovinenPäivi Lahermo, Kati Donner, Giacomo Pietro Comi, Vincenzo Nigro, Peter Hackman, Bjarne Udd

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalActa Neuropathologica
Volume142
Pages (from-to)375-393
Number of pages19
ISSN0001-6322
DOIs
Publication statusPublished - Aug 2021
MoE publication typeA1 Journal article-refereed

Fields of Science

  • X-linked
  • Distal myopathy
  • Proteinopathy
  • Amyloidogenesis
  • Stress granules
  • HEARING-LOSS
  • MULTISYSTEM PROTEINOPATHY
  • PHASE-SEPARATION
  • RARE FORM
  • AGE
  • 3112 Neurosciences

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