The G41D mutation in SOD1-related amyotrophic lateral sclerosis exhibits phenotypic heterogeneity among individuals: A case report and literature review

RATIONALE: Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease. However, the misdiagnosis of ALS always occurs because of atypical clinical manifestations. Since mutations in Cu/Zn superoxide dismutase 1 (SOD1) have been implicated as causative and account for 20...

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Detalles Bibliográficos
Autores principales: Zhao, Xinyi, Feng, Xinhong, Li, Xiuli, Mou, Jingyu, Liu, Hongjing, Chen, Jing, Wu, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
5300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8830837/
https://www.ncbi.nlm.nih.gov/pubmed/35147103
http://dx.doi.org/10.1097/MD.0000000000028771

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8830837/
https://www.ncbi.nlm.nih.gov/pubmed/35147103
http://dx.doi.org/10.1097/MD.0000000000028771

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