Ontology highlight
ABSTRACT:
SUBMITTER: Rossor AM
PROVIDER: S-EPMC5130159 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Rossor Alexander M AM Tomaselli Pedro J PJ Reilly Mary M MM
Current opinion in neurology 20161001 5
<h4>Purpose of review</h4>Charcot-Marie-Tooth disease (CMT) is one of the commonest inherited neuromuscular diseases with a population prevalence of 1 in 2500. This review will cover recent advances in the genetics and pathomechanisms of CMT and how these are leading to the development of rational therapies.<h4>Recent findings</h4>Pathomechanistic and therapeutic target advances in CMT include the identification of the ErbB receptor signalling pathway as a therapeutic target in CMT1A and pharmac ...[more]