Clinical analysis and literature review of sporadic amyotrophic lateral sclerosis caused by a novel mutation of MATR3 gene

摘要

Objective To analyze the clinical data and related literature of sporadic amyotrophic lateral sclerosis(sALS) caused by a new mutation of MATR3 gene.Methods A sALS patient with MATR3 gene mutation who was admitted to the Department of Neurology, the First Medical Center of Chinese People′s Liberation Army General Hospital was collected. The examination of biochemistry, electromyography, cranial magnetic resonance imaging (MRI) and genetic tests, etc, were performed.