Article
A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
Annals of neurology - 1 Aug 2021
Leoni Tauana Bernardes, González-Salazar Carelis, Rezende Thiago Junqueira R, Hernández Ana Luisa C, Mattos Alexandre Hilário B, Coimbra Neto Antônio Rodrigues, da Graça Felipe Franco, Gonçalves João Pedro Nunes, Martinez Alberto R M, Taniguti Lucas, Kitajima João Paulo, Kok Fernando, Rogério Fábio, da Silva André Macedo Serafim, de Oliveira Alexandre Leite Rodrigues, Zanoteli Edmar, Nucci Anamarli, França Marcondes C
Abstract excerpt
OBJECTIVE: Protein misfolding plays a central role not only in amyotrophic lateral sclerosis (ALS), but also in other conditions, such as frontotemporal dementia (FTD), inclusion body myopathy (hIBM) or Paget's disease of bone. The concept of multisystem proteinopathies (MSP) was created to account for those rare families that segregate at least 2 out of these 4 conditions in the same pedigree. The...
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