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 mothe...

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Detalles Bibliográficos
Autores principales: Vinciguerra, C., Di Fonzo, A., Monfrini, E., Ronchi, D., Cuoco, S., Piscosquito, G., Barone, P., Pellecchia, M. T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400291/
https://www.ncbi.nlm.nih.gov/pubmed/37547466
http://dx.doi.org/10.3389/fgene.2023.1235887

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400291/
https://www.ncbi.nlm.nih.gov/pubmed/37547466
http://dx.doi.org/10.3389/fgene.2023.1235887

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