A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

A heterozygous mutation in GRID2 that causes SCAR18 was first reported in an Algerian family with autosomal dominant cerebellar ataxia (ADCA). We identified the second ADCA family with a heterozygous GRID2 mutation. The Algerian family had cognitive impairment and hearing loss associated with cerebe...

Descripción completa

Detalles Bibliográficos
Autores principales: Koh, Kishin, Shimazaki, Haruo, Ogawa, Matsuo, Takiyama, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325744/
https://www.ncbi.nlm.nih.gov/pubmed/35882834
http://dx.doi.org/10.1038/s41439-022-00204-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325744/
https://www.ncbi.nlm.nih.gov/pubmed/35882834
http://dx.doi.org/10.1038/s41439-022-00204-x

Ejemplares similares