Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.

doi:10.1111/j.1750-3639.1992.tb00710.x

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Article

Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.

Brain pathology (Zurich, Switzerland) - 1 Oct 1992

Lupski J R, Garcia C A

Abstract excerpt

Charcot-Marie-Tooth (CMT) syndrome describes a genetically and clinically heterogeneous group of polyneuropathies. Electrophysiologically, at least two types of CMT can be distinguished; CMT1 which has decreased nerve conduction velocities (NCV) and CMT2 which has normal or near normal NCV with d...

Topics

Adult
Alleles
Animals
Charcot-Marie-Tooth Disease
Chromosome Mapping
Chromosomes, Human, Pair 17
Female
Gene Deletion
Genetic Linkage
Genetic Markers
Humans
Male
Mice
Mice, Neurologic Mutants
Multigene Family
Myelin Proteins
Pedigree
Peripheral Nerves

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