Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

ConclusionsOur results expand the genetic spectrum and clinical profiles of ARCA patients, demonstrate the high efficiency and reliability of WES combined with CNV analysis in the diagnosis of suspected ARCA, and emphasize the importance of complete bioinformatics analysis of WES data for accurate diagnosis.

http://link.springer.com/10.1186/s40035-021-00264-z

Source: Translational Neurodegeneration - October 18, 2021 Category: Neurology Source Type: research