RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.
Jean-Madeleine de Sainte AgatheSandra MercierJean-Yves MahéYann PéréonJulien BurattiLaurène TissierBophara KolSamia Ait SaidÉric LeguernGuillaume BanneauGiovanni StévaninPublished in: Movement disorders : official journal of the Movement Disorder Society (2020)
We confirm the involvement of biallelic truncating variants in RNF170 in a novel form of hereditary spastic paraplegia. © 2020 International Parkinson and Movement Disorder Society.