Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclus...
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
About this item
Full title
Author / Creator
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 and Udd, Bjarne
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
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 that this disease could be prevalent in o...
Alternative Titles
Full title
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8270885
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8270885
Other Identifiers
ISSN
0001-6322
E-ISSN
1432-0533
DOI
10.1007/s00401-021-02319-x
