A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.

CONCLUSIONS: This report extends the allelic heterogeneity of SETX mutations causing AOA2 and also presents an asymptomatic patient with a pathogenic ATM variant. PMID: 30198223 [PubMed - as supplied by publisher]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research