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Abstract
Selenoprotein N-related myopathy is a rare congenital disorder characterized by axial muscle weakness, scoliosis, and respiratory failure, caused by mutations in the selenoprotein N (SelN) encoded by SEPN1. Four pathological entities have been associated with SEPN1 mutations: Rigid Spine Muscular Dystrophy, Multi-minicore Disease, Desmin-Related Myopathy with Mallory Body – like Inclusions, and Congenital Fibre Type Disproportion. SelN is a glycoprotein of unknown function, localized in the membrane of the endoplasmic reticulum, and it is characterized, as all the selenoproteins, by a specific selenocysteine residue.
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