@article{1fe8082f15f84d1e8b195d9cdd89efd1,
title = "SEPN1-related myopathies: clinical course in a large cohort of patients",
abstract = "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.",
keywords = "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, 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",
author = "M. Scoto and S. Cirak and R. Mein and L. Feng and Manzur, {A. Y.} and S. Robb and Childs, {A. M.} and Quinlivan, {R. M.} and H. Roper and Jones, {D. H.} and C. Longman and G. Chow and Marika Pane and M. Main and Hanna, {M. G.} and K. Bushby and C. Sewry and S. Abbs and Mercuri, {Eugenio Maria} and F. Muntoni",
year = "2011",
doi = "10.1212/WNL.0b013e31821f467c",
language = "English",
volume = "76",
pages = "2073--2078",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
}