Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias
- Resource Type
- Authors
- Cagnoli, Claudia; Stevanin, G; Brussino, Alessandro; Barberis, MARCO ANDREA; Mancini, Cecilia; Margolis, Rl; Holmes, Se; Nobili, M; Forlani, S; Padovan, S; Pappi, P; Zaros, C; Leber, I; Ribai, P; Pugliese, L; Assalto, C; Brice, A; Migone, Nicola; Dürr, A; Brusco, Alfredo
- Source
- Subject
- SCA28
spinocerebellar ataxia
autosomal dominant cerebellar ataxia
AFG3L2
- Language
- English