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Article

Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia

14 Dec 2018

Abstract excerpt

OBJECTIVE: Variant ataxia-telangiectasia is caused by mutations that allow some retained ataxia telangiectasia-mutated (ATM) kinase activity. Here, we describe the clinical features of the largest established cohort of individuals with variant ataxia-telangiectasia and explore genotype-phenotype correlations. METHODS: Cross-sectional data were collected retrospectively. Patients were classified as variant...

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PMID: 30549301
DOI: 10.1002/ana.25394

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