Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2

Abstract

The kinesin heavy chain isoform 5A (KIF5A) gene on chromosome 12q13.3 encodes a neuron-specific kinesin heavy chain (KHC), which consists of an N-terminal motor domain, a stalk domain and a...