by R d G. Worton Charcot-Marie tooth disease, a pathologically and genetically heterogeneous group of disorders that causes a progressive neuropathy, is characterized by weakness and atrophy, primarily in peroneal and distal leg muscles. It is defined patholog-Mutation leads to 10s:. of this Mae 111
Heterozygous Null Mutation in the P0 Gene Associated with Mild Charcot-Marie-Tooth Disease
✍ Scribed by D. PAREYSON; D. MENICHELLA; S. BOTTI; A. SGHIRLANZONI; E. FALLICA; M. MORA; C. CIANO; M. E. SHY; F. TARONI
- Book ID
- 111395475
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 869 KB
- Volume
- 883
- Category
- Article
- ISSN
- 0890-6564
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Communicated by Jean-Louis Mandel Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17pl1.2 (CMT la). Micromutations were found in the gene for peripheral
## Abstract Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (__MPZ__) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected c