Mutation of the Myelin Po Gene in Charcot-Marie-Tooth Neuropathy Type 1
โ Scribed by K. Hayasaka; A. Ohnishi; G. Takada; Y. Fukushima; Y. Murai
- Book ID
- 115573347
- Publisher
- Elsevier Science
- Year
- 1993
- Tongue
- English
- Weight
- 279 KB
- Volume
- 194
- Category
- Article
- ISSN
- 0006-291X
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๐ SIMILAR VOLUMES
The myelin protein zero gene (MPZ) maps to chromosome lq22-23 and encodes the most abundant peripheral nerve myelin protein. The Po protein functions as a homophilic adhesion molecule in myelin compaction. Mutations in the MPZ gene are associated with the demyelinating peripheral neuropathies Charco
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