Article
SEPN1-related myopathies: clinical course in a large cohort of patients.
Neurology - 14 Jun 2011
Scoto M, Cirak S, Mein R, Feng L, Manzur A Y, Robb S, Childs A-M, Quinlivan R M, Roper H, Jones D H, Longman C, Chow G, Pane M, Main M, Hanna M G, Bushby K, Sewry C, Abbs S, Mercuri E, Muntoni F
Abstract excerpt
OBJECTIVE: 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. METHODS: Forty-one patients aged 1-60 years were included. Clinical data including scoliosis, respiratory function, and growth measurements were collected by case note review. RESULTS: Mean...
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