2. Sewry CA, Jimenez-Mallebrera C, Muntoni F: Congenital myopathies. Curr Opin Neurol 2008;21:569-575.
4. Cohen E, Bonne G, Rivier F, Hamroun D: The 2022 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscul Disord 2021;31:1313-1357.
6. Scoto M, Cirak S, Mein R, Feng L, Manzur AY, Robb S, et al: SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology 2011;76:2073-2078.
10. Izawa NI, Ohsawa YO, Kutoku YK, Okamoto YO, Takashima HT, Sunada YS: P1.34 A novel homozygous mutation of the selenoprotein gene causes rigid spine syndrome with muscular dystrophy. Neuromuscul Disord 2010;20:610-611.
14. Silwal A, Sarkozy A, Scoto M, Ridout D, Schmidt A, Laverty A, et al: Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials. Ann Clin Transl Neurol 2020;7:2288-2296.
19. Hankiewicz K, Carlier RY, Lazaro L, Linzoain J, Barnerias C, Gómez-Andrés D, et al: Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern. Muscle Nerve 2015;52:728-735.