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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Detalles Bibliográficos
Autores principales: Fan, Yanbin, Xu, Zhifei, Li, Xing, Gao, Feng, Guo, Enyu, Chang, Xingzhi, Wei, Cuijie, Zhang, Cheng, Yu, Qing, Que, Chengli, Xiao, Jiangxi, Yan, Chuanzhu, Wang, Zhaoxia, Yuan, Yun, Xiong, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8967691/
https://www.ncbi.nlm.nih.gov/pubmed/35368679
http://dx.doi.org/10.3389/fgene.2022.825793

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8967691/
https://www.ncbi.nlm.nih.gov/pubmed/35368679
http://dx.doi.org/10.3389/fgene.2022.825793

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