Mutation spectrum of Chinese patients with familial and sporadic amyotrophic lateral sclerosis

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterised by motor neuron degeneration in the primary motor cortex, brainstem and spinal cord. In two studies, >20 genes were associated with ALS and a number of patients carried potentially pathogenic variants in multiple ALS genes.1 ,2 We investigated the burden of influence of variants on ALS phenotype, and genetic profile of familial ALS...

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