Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.
Brain ( IF 10.6 ) Pub Date : 2020-05-18 , DOI: 10.1093/brain/awaa122
Ilse Eidhof ₁ , Jonathan Baets _{2, 3, 4} , Erik-Jan Kamsteeg ₁ , Annette Schenck ₁ , Bart P van de Warrenburg ₅

更新日期：2020-05-18