Clinical and genetic features of a cohort of patients with MFN2-related neuropathy

Charcot–Marie–Tooth disease type 2A (CMT2A) is a rare inherited axonal neuropathy caused by mutations in MFN2 gene, which encodes Mitofusin 2, a transmembrane protein of the outer mitochondrial membrane. We performed a cross-sectional analysis on thirteen patients carrying mutations in MFN2, from te...

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Detalles Bibliográficos
Autores principales: Abati, Elena, Manini, Arianna, Velardo, Daniele, Del Bo, Roberto, Napoli, Laura, Rizzo, Federica, Moggio, Maurizio, Bresolin, Nereo, Bellone, Emilia, Bassi, Maria Teresa, D’Angelo, Maria Grazia, Comi, Giacomo Pietro, Corti, Stefania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9008012/
https://www.ncbi.nlm.nih.gov/pubmed/35418194
http://dx.doi.org/10.1038/s41598-022-10220-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9008012/
https://www.ncbi.nlm.nih.gov/pubmed/35418194
http://dx.doi.org/10.1038/s41598-022-10220-0

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