SEPN1-related myopathies: clinical course in a large cohort of patients

M. Scoto, S. Cirak, R. Mein, L. Feng, A. Y. Manzur, S. Robb, A. M. Childs, R. M. Quinlivan, H. Roper, D. H. Jones, C. Longman, G. Chow, Marika Pane, M. Main, M. G. Hanna, K. Bushby, C. Sewry, S. Abbs, Eugenio Maria Mercuri, F. Muntoni

Risultato della ricerca: Contributo in rivistaArticolo in rivista

48 Citazioni (Scopus)


To assess the clinical course and genotype-phenotype correlations in patients with selenoprotein-related myopathy (SEPN1-RM) due to selenoprotein N1 gene (SEPN1) mutations for a retrospective cross-sectional study.
Lingua originaleEnglish
pagine (da-a)2073-2078
Numero di pagine6
Stato di pubblicazionePubblicato - 2011


  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cohort Studies
  • Cross-Sectional Studies
  • Female
  • Genetic Association Studies
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Muscle Proteins
  • Muscular Diseases
  • Mutation
  • Selenoproteins
  • Severity of Illness Index
  • Young Adult


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