Ontology highlight
ABSTRACT:
SUBMITTER: Azzedine H
PROVIDER: S-EPMC3531925 | biostudies-literature | 2012 Nov
REPOSITORIES: biostudies-literature
Azzedine H H Senderek J J Rivolta C C Chrast R R
Molecular syndromology 20121012 5
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders of the peripheral nervous system, mainly characterized by distal muscle weakness and atrophy leading to motor handicap. With an estimated prevalence of 1 in 2,500, this condition is one of the most commonly inherited neurological disorders. Mutations in more than 30 genes affecting glial and/or neuronal functions have been associated with different forms of CMT leading to a substantial improvement in diagnostics of the disea ...[more]