Initial semeiology in children with Charcot–Marie–Tooth disease 1A duplication
✍ Scribed by José Berciano; Antonio García; Onofre Combarros
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 195 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0148-639X
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📜 SIMILAR VOLUMES
We report here the second case of Charcot-Marie-Tooth disease 1A (CMT1A) with a cytogenetically visible de novo direct duplication of 17p11.1-->17p12. A male child who was initially referred for developmental delay and dysmorphism was subsequently shown to have significantly reduced motor nerve cond
## 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