Clinical progression in Charcot–Marie-Tooth disease type 1A duplication: clinico-electrophysiological and MRI longitudinal study of a family
✍ Scribed by José Berciano; Elena Gallardo; Antonio García; César Ramón; Jon Infante; Onofre Combarros
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 449 KB
- Volume
- 257
- Category
- Article
- ISSN
- 0340-5354
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📜 SIMILAR VOLUMES
Charcot-Marie-Tooth type 1B is an uncommon form of hereditary motor and sensory neuropathy caused by mutations in the Po myelin protein gene on chromosome 1. We report here a 20-year observation of 13 members of the first family with Charcot-Marie-Tooth disease to demonstrate linkage to chromosome 1
In a cross-sectional, clinical, and morphometric analysis we assessed the correlation between the clinical and pathological evolution of disease in 20 unrelated patients of various ages affected by Charcot-Marie-Tooth neuropathy type 1A (CMT1A) with the 17p11.2p12 (peripheral myelin protein 22, PMP2