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
Expression of peripheral myelin protein zero in sural nerve of patients with Charcot-Marie-Tooth disease 1B
โ Scribed by Nobutada Tachi; Naoki Kozuka; Kazuhiro Ohya; Shunzo Chiba; Kimio Sasaki; Keiichi Uyemura
- Book ID
- 117590815
- Publisher
- Elsevier Science
- Year
- 2001
- Tongue
- English
- Weight
- 232 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0887-8994
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Charcot-Marie-Tooth type 1B (CMT 1B) disease, an inherited demyelinating peripheral neuropathy, results from different point mutations located in the P0 gene on chromosome 1 q21-23. We have quantified, at the ultrastructural level, the immunocytochemical expression of the P0 protein in two unrelated
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 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