Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms

Huin, V; Barbier, M; Bottani, A; Lobrinus, JA; Clot, F; Lamari, F; Chat, L; Rucheton, B; Fluchere, F; Auvin, S; Myers, P; Gelot, A; Camuzat, A; Caillaud, C; Jornea, L; Forlani, S; Saracino, D; Duyckaerts, C; Brice, A; Durr, A; Le Ber, I

BRAIN, 2020; 143 (): 303

Abstract

Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder ch......

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