Article
RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.
Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2021
de Sainte Agathe Jean-Madeleine, Mercier Sandra, Mahé Jean-Yves, Péréon Yann, Buratti Julien, Tissier Laurène, Kol Bophara, Said Samia Ait, Leguern Éric, Banneau Guillaume, Stévanin Giovanni
Abstract excerpt
BACKGROUND: Spastic paraparesis and biallelic variants functionally characterized as deleterious in the RNF170 gene have recently been reported by Wagner et al. 2019, strongly supporting the involvement of this gene in hereditary spastic paraplegia. METHODS: Exome sequencing was performed on 6 hereditary spastic paraplegia families previously tested on an hereditary spastic paraplegia-specific panel. RESULTS: We...
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