Missense Mutations of Codon 116 in the SOD1 Gene Cause Rapid Progressive Familial ALS and Predict Short Viability With PMA Phenotype

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease, characterized by a great variety of both clinical presentations and genetic causes. Previous studies had identified two different missense mutations in SOD1 (p.R116C and p.R116G) causing familial ALS. In this study,...

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Autors principals:	Xinmei Wen, Wenjia Zhu, Nan L. Xia, Qianwen Li, Li Di, Shu Zhang, Hai Chen, Yan Lu, Min Wang, Min Xu, Suobin Wang, Xin-Ming Shen, Jie Lu, Yuwei Da
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2021-11-01
Col·lecció:	Frontiers in Genetics
Matèries:	amyotrophic lateral sclerosis SOD1 lower motor neuron progressive muscular atrophy rapid progression
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fgene.2021.776831/full
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