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Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies

Background: Selenoprotein N-related myopathies (SEPN1-RMs) are a subset of congenital myopathies caused by mutations of Selenoprotein N gene (SELENON or SEPN1). Clinical phenotype is considered as highly consistent and little attention has been given to the extramuscular abnormalities. Methods: We r...

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Detalles Bibliográficos
Autores principales: Zhang, Shu, Lei, Lin, Fan, Zhirong, Su, Shengyao, Duo, Jianying, Luan, Qinrong, Lu, Yan, Di, Li, Wang, Min, Da, Yuwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8639696/
https://www.ncbi.nlm.nih.gov/pubmed/34867752
http://dx.doi.org/10.3389/fneur.2021.766942