1.
Clin Case Rep
; 7(6): 1149-1153, 2019 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31183084
RESUMO
Different mutations in glutamate receptor ionotropic delta 2 (GRID2) gene cause cerebellar ataxia in human. We report the largest homozygous deletion of the GRID2 gene reported to date, most probably causing complete loss of the gene product. Our patient presents mainly early onset cerebellar ataxia, cerebellar atrophy, nystagmus, and developmental delay with the least amount of intellectual disability.