## Abstract Over the last 15 years, a number of mutations in a variety of genes have been identified that lead to inherited motor and sensory neuropathies (HMSN), also called CharcotโMarieโTooth disease (CMT). In this review we will focus on the molecular and cellular mechanisms that cause the Schw
Autonomic function in hereditary motor and sensory neuropathy (charcot-marie-tooth disease)
โ Scribed by Dr.; MB; BS; Phd Timothy J. Ingall; Prof.; MB; BS; DPhil James G. McLeod
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 360 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0148-639X
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๐ SIMILAR VOLUMES
Hereditary motor and sensory neuropathy type I (HMSNI), also known as Charcot-Marie-Tooth disease type 1 (CMTl), has been shown to be genetically heterogeneous. A major gene maps to chromosome 17 (CMTlA). A set of loci, D17S122, D17S125, and D17S124, show tight linkage to the C M T l A locus, and a
Our patient material included families and sporadic patients of Finnish origin with the diagnosis of Charcot-Marie-Tooth (CMT) disease types 1 and 2, Dejerine-Sottas syndrome (DSS), and hereditary neuropathy with liability to pressure palsies (HNPP). We screened for mutations in the peripheral myeli