Ontology highlight
ABSTRACT:
SUBMITTER: Schiavon CR
PROVIDER: S-EPMC7882694 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
Schiavon Cara R CR Shadel Gerald S GS Manor Uri U
Frontiers in cell and developmental biology 20210201
Charcot-Marie-Tooth (CMT) disease is a progressive, peripheral neuropathy and the most commonly inherited neurological disorder. Clinical manifestations of CMT mutations are typically limited to peripheral neurons, the longest cells in the body. Currently, mutations in at least 80 different genes are associated with CMT and new mutations are regularly being discovered. A large portion of the proteins mutated in axonal CMT have documented roles in mitochondrial mobility, suggesting that organelle ...[more]