Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients

Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients

Congenital muscular dystrophy with early rigid spine, also known as the rigid spine with muscular dystrophy type 1 (RSMD1), is caused by SEPN1 mutation. We investigated the clinical manifestations, pathological features, and genetic characteristics of 8 Chinese RSMD1 patients in order to improve dia...

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Bibliographic Details
Main Authors: Yanbin Fan, Zhifei Xu, Xing Li, Feng Gao, Enyu Guo, Xingzhi Chang, Cuijie Wei, Cheng Zhang, Qing Yu, Chengli Que, Jiangxi Xiao, Chuanzhu Yan, Zhaoxia Wang, Yun Yuan, Hui Xiong
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Genetics
Subjects:
congenital muscular dystrophy with spinal rigidity
rigid spine with muscular dystrophy type 1
respiratory insufficiency
SEPN1 gene
selenoprotein N
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.825793/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.825793/full

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