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Course of Selenoprotein-Related Myopathies

The clinical course and genotype-phenotype correlations in 41 patients aged 1-60 years with selenoprotein-related myopathy (SEPNRM) due to SEPN1 gene mutations were evaluated retrospectively in a study at The Dubowitz Neuromuscular Center, London, and other centers in the UK.

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Detalhes bibliográficos
Autor principal: J Gordon Millichap
Formato: Artigo
Idioma:Inglês
Publicado em: Pediatric Neurology Briefs Publishers 2011-08-01
Colecção:Pediatric Neurology Briefs
Assuntos:
Acesso em linha:https://www.pediatricneurologybriefs.com/articles/664
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