Article
Genetics of neuropathies.
Seminars in neurology - 1 Nov 2011
Siskind Carly E, Shy Michael E
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) encompasses the heritable motor and sensory neuropathies that comprise most of the inherited peripheral neuropathies. Due to the great genetic heterogeneity of the condition, it can be difficult to determine what type of CMT a person has. The major phenotypic features of the CMT subtypes are delineated, as well as recommendations for focused genetic testing.
Topics
- Charcot-Marie-Tooth Disease
- Genetic Heterogeneity
- Genetic Testing
- Hereditary Sensory and Motor Neuropathy
- Humans
- Mutation