SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

Conclusion: In this study, we report a novel variant (p.Trp160Ser) inSLC25A46 and we broaden the phenotypic spectrum associated with mutations inSLC25A46.Neurodegener Dis 2017;17:208-212
Source: Neurodegenerative Diseases - Category: Neurology Source Type: research