A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
Breza M, Bourinaris T, Efthymiou S, Maroofian R, Athanasiou-Fragkouli A, Tzartos J, Velonakis G, Karavasilis E, Angelopoulou G, Kasselimis D, Potagas C, Stefanis L, Karadima G, Koutsis G, Houlden H.
Breza M, et al. Among authors: velonakis g.
Brain. 2020 Jun 1;143(6):e49. doi: 10.1093/brain/awaa120.
Brain. 2020.
PMID: 32428220
Free PMC article.
No abstract available.