A Patient with neurofibromatosis type 1 and Charcot–Marie–Tooth disease type 1B
✍ Scribed by Eric Lancaster; Lauren B. Elman; Steven S. Scherer
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 171 KB
- Volume
- 41
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Two sisters with a Charcot-Marie-Tooth disease type 1A (CMT1A) duplication, who had an unusual CMT1A clinical phenotype, are described. The 63-year-old proband presented with dysesthesia on the inner side of the right leg. Neurological examination revealed a localized sensory disturbance in the lowe
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
## BACKGROUND. A general predisposition for vincristine-related neuropathy has been observed in persons with a family history of hereditary neuropathies. ## METHODS. In a retrospective case series, we investigated the possible association between the DNA rearrangement found in patients with Cha
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