Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
Patrick R BlackburnMatthew J SchultzCarrie A LahnerDong LiElizabeth BhojLaura J FisherDeborah L RenaudAmy KenneyNiema IbrahimMais HashemMohammed Zain SeidahmedLinda HasadsriSamantha A Schrier VerganoFowzan Sami AlkurayaBrendan C LanpherPublished in: Annals of clinical and translational neurology (2020)
In this study, we highlight the importance of recognizing milder forms of the disorder, which may escape detection due to atypical disease presentation.