Article
Mechanisms and Treatments in Demyelinating CMT.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics - 1 Oct 2021
Fridman Vera, Saporta Mario A
Abstract excerpt
Demyelinating forms of Charcot-Marie-Tooth disease (CMT) are genetically and phenotypically heterogeneous and result from highly diverse biological mechanisms including gain of function (including dominant negative effects) and loss of function. While no definitive treatment is currently available, rapid advances in defining the pathomechanisms of demyelinating CMT have led to promising pre-clinical studies, as...
Topics
- Animals
- Charcot-Marie-Tooth Disease
- Genetic Therapy
- Mutation
- Proteins