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

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Title: Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Authors: Johari, Mridul1,2 (AUTHOR) mridul.johari@helsinki.fi, Sarparanta, Jaakko1,2 (AUTHOR), Vihola, Anna1,2,3 (AUTHOR), Jonson, Per Harald1,2 (AUTHOR), Savarese, Marco1,2 (AUTHOR), Jokela, Manu4,5 (AUTHOR), Torella, Annalaura6 (AUTHOR), Piluso, Giulio6 (AUTHOR), Said, Edith7,8 (AUTHOR), Vella, Norbert9 (AUTHOR), Cauchi, Marija9 (AUTHOR), Magot, Armelle10 (AUTHOR), Magri, Francesca11 (AUTHOR), Mauri, Eleonora11 (AUTHOR), Kornblum, Cornelia12 (AUTHOR), Reimann, Jens12 (AUTHOR), Stojkovic, Tanya13 (AUTHOR), Romero, Norma B.14 (AUTHOR), Luque, Helena1,2 (AUTHOR), Huovinen, Sanna15 (AUTHOR)
Source: Acta Neuropathologica. Aug2021, Vol. 142 Issue 2, p375-393. 19p.
Database: Academic Search Ultimate
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  Data: Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
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  Data: <searchLink fieldCode="JN" term="%22Acta+Neuropathologica%22">Acta Neuropathologica</searchLink>. Aug2021, Vol. 142 Issue 2, p375-393. 19p.
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