摘要
Objective To report the clinical characteristics of a case of childhood amyotrophic lateral sclerosis (ALS)caused by SPTLC2 c.778G> A (p.Glu260Lys)mutation.Methods Whole exon sequencing or whole genome sequencing data from 1 936 patients in the ALS cohort of Peking Union Medical College Hospital were screened for SPTLC2 gene mutations.Clinical data.
作者
杨洵哲
YANG Xunzhe(Dept Neurol,PUMC&CAMS,Beijing 100730)
