Goya and a possible first visual representation of Charcot-Marie-Tooth disease
✍ Scribed by Jose Maria Perez-Trullen; Alvaro Gimenez-Muñoz; Jose Carlos Roche; Isabel Campello; Maria Jose Garcia Gomara; Sara Sanchez Valiente
- Book ID
- 112147983
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 886 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Concurrence of myasthenia gravis (MG) and Charcot-Marie-Tooth type 1 (CMT1A) neuropathy is rare. We describe a 60-year-old woman with MG and genetically proved CMT1A. The fluctuating ocular symptoms and proximal limb weakness were markedly improved by pyridostigmine treatment. Recognition of the pos
This report describes two families with type 1 Charcot-Marie-Tooth disease (CMTX), or hereditary motor sensory neuropathy type 1. Pedigree analysis is consistent with Xlinked recessive inheritance in one family and X-linked dominant inheritance in the second. In the first family, a mutation in the c