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

Abstract 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...

Full description

Bibliographic Details
Published in:Scientific Reports
Main Authors: Elena Abati, Arianna Manini, Daniele Velardo, Roberto Del Bo, Laura Napoli, Federica Rizzo, Maurizio Moggio, Nereo Bresolin, Emilia Bellone, Maria Teresa Bassi, Maria Grazia D’Angelo, Giacomo Pietro Comi, Stefania Corti
Format: Article
Language:English
Published: Nature Portfolio 2022-04-01
Online Access:https://doi.org/10.1038/s41598-022-10220-0

Internet

https://doi.org/10.1038/s41598-022-10220-0

Similar Items