Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2

Tunc S, Dulovic-Mahlow M, Baumann H, Baaske MK, Jahn M, Junker J, Münchau A, Brüggemann N, Lohmann K
Cerebellum. 2019 Aug;18(4):817-822. doi: 10.1007/s12311-019-01036-2.
https://pubmed.ncbi.nlm.nih.gov/31111429/