Ontology highlight
ABSTRACT:
SUBMITTER: De Gioia R
PROVIDER: S-EPMC7541381 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
De Gioia Roberta R Citterio Gaia G Abati Elena E Nizzardo Monica M Bresolin Nereo N Comi Giacomo Pietro GP Corti Stefania S Rizzo Federica F
Molecular neurobiology 20200827 12
Charcot-Marie-Tooth disease type 2A (CMT2A), arising from mitofusin 2 (MFN2) gene mutations, is the most common inherited axonal neuropathy affecting motor and sensory neurons. The cellular and molecular mechanisms by which MFN2 mutations determine neuronal degeneration are largely unclear. No effective treatment exists for CMT2A, which has a high degree of genetic/phenotypic heterogeneity. The identification of mutations in MFN2 has allowed the generation of diverse transgenic animal models, bu ...[more]