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 re...

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Detalhes bibliográficos

Principais autores:	Shu Zhang, Lin Lei, Zhirong Fan, Shengyao Su, Jianying Duo, Qinrong Luan, Yan Lu, Li Di, Min Wang, Yuwei Da
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2021-11-01
coleção:	Frontiers in Neurology
Assuntos:	SELENON Selenoprotein N delayed respiratory insufficiency extramuscular abnormalities mutation
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fneur.2021.766942/full
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