Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family

Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family

Background:MFN2 gene encodes the protein Mitofusin 2, involved in essential mitochondrial functions such as fusion, trafficking, turnover, and cellular interactions. We describe a family carrying a novel MFN2 mutation associated with ALS-frontotemporal dementia (FTD) clinical phenotype in the mother...

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Bibliographic Details
Main Authors: C. Vinciguerra, A. Di Fonzo, E. Monfrini, D. Ronchi, S. Cuoco, G. Piscosquito, P. Barone, M. T Pellecchia
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Genetics
Subjects:
mitofusin 2-gene (MFN2)
amyotrophic lateral sclerosis (ALS)
frontotemporal dementia (FTD)
whole exom sequencing
charcot marie tooth (CMT)
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1235887/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1235887/full

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