Article
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
Neuron - 1 Sept 1996
Warner L E, Hilz M J, Appel S H, Killian J M, Kolodry E H, Karpati G, Carpenter S, Watters G V, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski J R
Abstract excerpt
Hereditary demyelinating peripheral neuropathies consist of a heterogeneous group of genetic disorders that includes hereditary neuropathy with liability to pressure palsies (HNPP), Charcot-Marie-Tooth disease (CMT), Dejerine-Sottas syndrome (DSS), and congenital hypomyelination (CH). The clinica...
Topics
- Adult
- Charcot-Marie-Tooth Disease
- Cloning, Molecular
- Cohort Studies
- Crystallography
- DNA Mutational Analysis
- Demyelinating Diseases
- Female
- Genotype
- Hereditary Sensory and Motor Neuropathy
- Humans
- Male
- Microscopy, Electron
- Myelin P0 Protein