Journal
SEMINARS IN NEUROLOGY
Volume 31, Issue 5, Pages 494-505Publisher
THIEME MEDICAL PUBL INC
DOI: 10.1055/s-0031-1299788
Keywords
Peripheral neuropathy; inherited; Charcot-Marie-Tooth disease; genetic testing
Categories
Funding
- NINDS/ORD
- Muscular Dystrophy Association
- Charcot-Marie-Tooth Association
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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.
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