Article
Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes.
Cell reports - 28 Mar 2017
Morelli Kathryn H, Seburn Kevin L, Schroeder David G, Spaulding Emily L, Dionne Loiuse A, Cox Gregory A, Burgess Robert W
Abstract excerpt
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...
Topics
- Animals
- Axons
- Carrier Proteins
- Cell Adhesion Molecules
- Charcot-Marie-Tooth Disease
- Demyelinating Diseases
- Disease Models, Animal
- Heterozygote
- Intracellular Signaling Peptides and Proteins
- Mice, Inbred C57BL