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.

Scoto, M., Cirak, S., Mein, R., Feng, L., Manzur, A., Robb, S., Childs, A., Quinlivan, R., Roper, H., Jones, D., Longman, C., Chow, G., Pane, M., Main, M., Hanna, M., Bushby, K., Sewry, C., Abbs, S., Mercuri, E. M., Muntoni, F., SEPN1-related myopathies: clinical course in a large cohort of patients, <<NEUROLOGY>>, 2011; 76 (24): 2073-2078. [doi:10.1212/WNL.0b013e31821f467c] [http://hdl.handle.net/10807/6693]

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

Pane, Marika;Mercuri, Eugenio Maria;
2011

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.
2011
Inglese
Scoto, M., Cirak, S., Mein, R., Feng, L., Manzur, A., Robb, S., Childs, A., Quinlivan, R., Roper, H., Jones, D., Longman, C., Chow, G., Pane, M., Main, M., Hanna, M., Bushby, K., Sewry, C., Abbs, S., Mercuri, E. M., Muntoni, F., SEPN1-related myopathies: clinical course in a large cohort of patients, <<NEUROLOGY>>, 2011; 76 (24): 2073-2078. [doi:10.1212/WNL.0b013e31821f467c] [http://hdl.handle.net/10807/6693]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/6693
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