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

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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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
Materias:
amyotrophic lateral sclerosis
SOD1
lower motor neuron
progressive muscular atrophy
rapid progression
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/05e392a11dd147c9a190895c52b89503
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