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

Using deep phenotyping and high-throughput sequencing, we have identified a novel type of distal myopathy caused by mutations in the Small muscle protein X-linked (SMPX) gene. Four different missense mutations were identified in ten patients from nine families in five different countries, suggesting...

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Detalhes bibliográficos
Publicado no:Acta Neuropathol
Main Authors: Johari, Mridul, Sarparanta, Jaakko, Vihola, Anna, Jonson, Per Harald, Savarese, Marco, Jokela, Manu, Torella, Annalaura, Piluso, Giulio, Said, Edith, Vella, Norbert, Cauchi, Marija, Magot, Armelle, Magri, Francesca, Mauri, Eleonora, Kornblum, Cornelia, Reimann, Jens, Stojkovic, Tanya, Romero, Norma B., Luque, Helena, Huovinen, Sanna, Lahermo, Päivi, Donner, Kati, Comi, Giacomo Pietro, Nigro, Vincenzo, Hackman, Peter, Udd, Bjarne
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2021
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Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8270885/
https://ncbi.nlm.nih.gov/pubmed/33974137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-021-02319-x
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