SEPN1-related myopathy in three patients: novel mutations and diagnostic clues

European Journal of Pediatrics
Anna ArdissoneIsabella Moroni

Abstract

Mutations in SEPN1 cause selenoprotein N (SEPN)-related myopathy (SEPN-RM) characterized by early-onset axial and neck weakness, spinal rigidity, respiratory failure and histopathological features, ranging from mild dystrophic signs to a congenital myopathy pattern with myofibrillar disorganization. We report on clinical and instrumental features in three patients affected with a congenital myopathy characterized by prevalent neck weakness starting at different ages and mild myopathy, in whom we performed diagnosis of SEPN-RM. The patients presented myopathic signs since their first years of life, but the disease remained unrecognized because of a relatively benign myopathic course. In two cases, myopathic features were stable after 2 years of follow-up, but respiratory involvement worsened. The muscle MRI and muscle biopsy showed a typical pattern of SEPN-RM. Molecular diagnosis revealed two novel homozygous mutations in SEPN1, c.1176delA and c.726_727InsTCC. This report underlines the clinical diagnostic clues of early neck and axial weakness to suspect a SEPN-RM and the usefulness of muscle MRI in conjunction with clinical features to achieve the diagnosis. Our data confirm the slow progression of respiratory involvement in ...Continue Reading

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Citations

Apr 19, 2018·American Journal of Physiology. Regulatory, Integrative and Comparative Physiology·Alex B AddinsallNicole Stupka
Mar 25, 2017·Molecular Medicine Reports·Marco VincetiMargherita Ferrante
Dec 15, 2019·Cells·Muhammad Umair, Majid Alfadhel
Jan 16, 2019·BMC Medical Genetics·Fateme ZiyaeeSeyed Alireza Dastgheib
Oct 11, 2020·Annals of Clinical and Translational Neurology·Arpana SilwalFrancesco Muntoni

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