Article
The various Charcot-Marie-Tooth diseases.
Current opinion in neurology - 1 Oct 2013
Vallat Jean-Michel, Mathis Stéphane, Funalot Benoît
Abstract excerpt
PURPOSE OF REVIEW: This review focuses on recent advances in the diagnostic approaches and the underlying pathophysiological mechanisms of Charcot-Marie-Tooth (CMT) disease. We also discuss the emerging therapies for this hereditary neuropathy. RECENT FINDINGS: To date, numerous genes are implicated in CMT, and new genes have recently been found to be associated with this neuropathy (INF2, FBLN5, etc.). Some...
Topics
- Animals
- Charcot-Marie-Tooth Disease
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Mutation
- Pathology, Molecular
- Phenotype