Dysmyelinating and demyelinating Charcot–Marie–Tooth disease associated with two myelin protein zero gene mutations
✍ Scribed by Hanna Drac; Dagmara Kabzińska; Izabela Moszyńska; Halina Strugalska-Cynowska; Irena Hausmanowa-Petrusewicz; Andrzej Kochański
- Book ID
- 107700424
- Publisher
- Springer-Verlag
- Year
- 2010
- Tongue
- English
- Weight
- 344 KB
- Volume
- 52
- Category
- Article
- ISSN
- 1234-1983
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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
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