Open AccessThe G41D mutation in SOD1-related amyotrophic lateral sclerosis exhibits phenotypic heterogeneity among individuals
Author(s) -
Xinyi Zhao,
Feng Xu,
Xiuli Li,
Jingyu Mou,
Hongjing Liu,
Jing Chen,
Jian Wu
Publication year - 2022
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000028771
Subject(s) - proband , amyotrophic lateral sclerosis , medicine , missense mutation , sanger sequencing , genetics , pedigree chart , sod1 , exon , genetic heterogeneity , genetic counseling , disease , mutation , phenotype , pathology , gene , biology