Ontology highlight
ABSTRACT:
SUBMITTER: Morelli KH
PROVIDER: S-EPMC5415377 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Morelli Kathryn H KH Seburn Kevin L KL Schroeder David G DG Spaulding Emily L EL Dionne Loiuse A LA Cox Gregory A GA Burgess Robert W RW
Cell reports 20170301 13
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited polyneuropathies. Mutations in 80 genetic loci can cause forms of CMT, resulting in demyelination and axonal dysfunction. The clinical presentation, including sensory deficits, distal muscle weakness, and atrophy, can vary greatly in severity and progression. Here, we used mouse models of CMT to demonstrate genetic interactions that result in a more severe neuropathy phenotype. The cell adhesion mo ...[more]