A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.

Tauana Bernardes LeoniCarelis González-SalazarThiago Junqueira Ribeiro de RezendeAna Luisa C HernándezAlexandre Hilário B MattosAntônio Rodrigues Coimbra NetoFelipe Franco da GraçaJoão Pedro Nunes GonçalvesAlberto R M MartinezLucas TanigutiJoão Paulo KitajimaFernando KokFábio RogérioAndré Macedo Serafim da SilvaAlexandre Leite Rodrigues de OliveiraEdmar ZanoteliAnamarli NucciMarcondes Cavalcante de França Junior

Published in: Annals of neurology (2021)

These findings expand the phenotypic spectrum related to ANXA11. This gene should be considered the cause of a novel multisystem proteinopathy (MSP type 6), rather than just ALS. ANN NEUROL 2021;90:239-252.

Keyphrases

intellectual disability
copy number
genome wide
amyotrophic lateral sclerosis
plasmodium falciparum
genome wide identification
neural network
gene expression
autism spectrum disorder