Our patient material included families and sporadic patients of Finnish origin with the diagnosis of Charcot-Marie-Tooth (CMT) disease types 1 and 2, Dejerine-Sottas syndrome (DSS), and hereditary neuropathy with liability to pressure palsies (HNPP). We screened for mutations in the peripheral myeli
A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease
โ Scribed by Conrad L. Leung; Narasimhan Nagan; Thomas H. Graham; Ronald K.H. Liem
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 260 KB
- Volume
- 140A
- Category
- Article
- ISSN
- 1552-4825
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๐ SIMILAR VOLUMES
DNA-based mutation analysis on the connexin 32 gene was performed in 49 families with Charcot-Marie-Tooth disease (CMT) type 1 but without duplication involving the chromosomal region, 17p12-p11.2. Mutations were identified in five of the 49 families, and four of the five mutations were hitherto und
Hereditary motor and sensory neuropathies (HMSN) comprises a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. Charcot-Marie-Tooth type 1 (CMT1) is the most common form and is usually a mild disease with onset in the first or second decade; however there is a