A Rare Case of Ataxia-Telangiectasia-Like Disorder With MRE11 Mutation

The prototypical disorder for the early-onset cerebellar ataxia with cerebellar atrophy is ataxia telangiectasia (AT). AT belongs to “DNA-repair defects” or “DNA-repair deficiency” disorders. The ATM (Ataxia-telangiectasia mutated kinase) gene mutated in AT is central to deoxyribonucleic acid (DNA)...

Descripción completa

Detalles Bibliográficos
Autores principales: Mahale, Rohan R, Reddy, Nishanth, Mathuranth, Pavagada, Mailankody, Pooja, Padmanabha, Hansashree, Retnaswami, Chandra Sadnavalli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847126/
https://www.ncbi.nlm.nih.gov/pubmed/33531947
http://dx.doi.org/10.4103/jpn.JPN_152_19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847126/
https://www.ncbi.nlm.nih.gov/pubmed/33531947
http://dx.doi.org/10.4103/jpn.JPN_152_19

Ejemplares similares