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)...

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Bibliographische Detailangaben
Veröffentlicht in:J Pediatr Neurosci
Hauptverfasser: Mahale, Rohan R, Reddy, Nishanth, Mathuranth, Pavagada, Mailankody, Pooja, Padmanabha, Hansashree, Retnaswami, Chandra Sadnavalli
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wolters Kluwer - Medknow 2020
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7847126/
https://ncbi.nlm.nih.gov/pubmed/33531947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_152_19
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