Peripheral nerve extracellular matrix remodeling in Charcot-Marie-Tooth type I disease
β Scribed by Camilla Palumbo; Roberto Massa; Maria Panico; Antonio Di Muzio; Paola Sinibaldi; Giorgio Bernardi; Andrea Modesti
- Publisher
- Springer-Verlag
- Year
- 2002
- Tongue
- English
- Weight
- 252 KB
- Volume
- 104
- Category
- Article
- ISSN
- 0001-6322
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Peripheral myelin protein-22 (PMP22) is expressed in myelinating Schwann cells and shows significant homology to murine growth arrest-specific gene gas3. Charcot-Marie-Tooth disease type l a (CMTla) is a common hereditary demyelinating neuropathy. Recently it was demonstrated that the gene for PMP22
## Abstract Expression profiling was performed on sciatic nerve of normal mice and of transgenic mice overexpressing the peripheral myelin protein 22 kDa (PMP22). These mice represent a model for the hereditary peripheral neuropathy CharcotβMarie Tooth type 1A. Comparison of the profiles reveals th
## Abstract A patient with Ewing's sarcoma and demyelinating type CharcotβMarieβTooth disease (CMT) developed severe neuropathy after receiving a total vincristine dose of 6 mg. Recovery was slow and incomplete. A second patient with axonal type CMT developed moderate neuropathy but tolerated exten
The human peripheral myelin protein 22 (PMP-22) gene has been mapped to chromosome 1 7 ~1 1 . 2 in the duplicated region associated with Charcot-Marie-Tooth disease type 1A. Southern blot analysis using PMP-22 as a probe indicated that the PMP-22 gene was duplicated in 5 patients from unrelated Japa