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FUS G559A Mutation in a Patient with a Frontotemporal Dementia-Motor Neuron Disease Compatible Syndrome: A Case Report

Fused in sarcoma (FUS) mutations cause frontotemporal dementia (FTD) and motor neuron disease (MND). Here, we describe a 43-year-old man with progressive behavioral and cognitive change, myelopathy, clinical and electrophysiologic evidence of MND, and a FUS variant of unknown significance (VUS). Thi...

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Detalles Bibliográficos
Autores principales: Swerdlow, Russell H., Jawdat, Omar, Swint-Kruse, Liskin, Townley, Ryan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578331/
https://www.ncbi.nlm.nih.gov/pubmed/37849626
http://dx.doi.org/10.3233/ADR-230103