SEPN1 Related Myopathy Presenting as Chronic Respiratory Insufficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s12098-023-04847-8.pdf
Reference4 articles.
1. Zhang S, Lei L, Fan Z, et al. Delayed respiratory insufficiency and extramuscular abnormalities in selenoprotein N-related myopathies. Front Neurol. 2021;12:766942.
2. Scoto M, Cirak S, Mein R, et al. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology. 2011;76:2073–8.
3. Villar-Quiles RN, von der Hagen M, Métay C, et al. The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: a case series. Neurology. 2020;95:e1512–27.
4. Saini AG, Padmanabha H, Kumar S, et al. SEPN1-related rigid spine muscular dystrophy. Indian J Pediatr. 2018;85:1033–4.
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