High‐throughput sequencing revealed a novel <scp>SETX</scp> mutation in a Hungarian patient with amyotrophic lateral sclerosis

Abstract

Our study contributes to the understanding of the genetic and phenotypic diversity of motor neuron diseases (MNDs). Our results also suggest that the elucidation of the genetic background of MNDs requires a complex approach, including the screening of both Mendelian and non-Mendelian genes.