Article
Phenotypic variability in patients with unique double homozygous mutations causing variant ataxia telangiectasia.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2021
Bistritzer Jacob, Mijalovsky Analia, Nissenkorn Andreea, Flusser Hagit, Levy Jacov, Nahum Amit, Broides Arnon
Abstract excerpt
Ataxia-Telangiectasia (A-T) is a neurodegenerative disease caused by bi-allelic mutations in the Ataxia-Telangiectasia-Mutated (ATM) gene. Complete lack of ATM activity leads to severe A-T and mutations allowing for residual activity cause a milder phenotype, termed variant A-T. There are only sparse data on the variability in phenotypes of variant A-T patients carrying the same mutations. A retrospective study...
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