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
✦ LIBER ✦
Early onset neuropathy in a compound form of Charcot–Marie–Tooth disease
✍ Scribed by Farid Meggouh; Marianne de Visser; Willem F. M. Arts; Rene I. F. M. De Coo; Ivo N. van Schaik; Frank Baas
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 65 KB
- Volume
- 57
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Spectrum of mutations in Finnish patient
✍
Kaisa Silander; Päivi Meretoja; Vesa Juvonen; Jaakko Ignatius; Helena Pihko; Ari
📂
Article
📅
1998
🏛
John Wiley and Sons
🌐
English
⚖ 304 KB
👁 1 views
A novel duplication/insertion mutation o
✍
Conrad L. Leung; Narasimhan Nagan; Thomas H. Graham; Ronald K.H. Liem
📂
Article
📅
2006
🏛
John Wiley and Sons
🌐
English
⚖ 260 KB
👁 2 views
A point mutation in codon 3 of connexin-
✍
Sanjoy Gupta; Timothy Benstead; Paul Neumann; Duane Guernsey
📂
Article
📅
1996
🏛
John Wiley and Sons
🌐
English
⚖ 236 KB
👁 2 views
Prenatal diagnosis of Charcot–Marie–Toot
✍
Catherine D. Kashork; James R. Lupski; Lisa G. Shaffer
📂
Article
📅
1999
🏛
John Wiley and Sons
🌐
English
⚖ 170 KB
👁 1 views
Charcot-Marie-Tooth Disease (CMT) is the most common cause of peripheral neuropathy, with an incidence of 1:2500 persons affected. Previously, we reported the use of fluorescence in situ hybridization (FISH) to detect the common submicroscopic duplication of 17p12 found in more than 98 per cent of i
Significance of facial and trigeminal ne
✍
Hiroaki Ito; Toshikazu Tsuji; Toyokazu Saito; Hisayuki Kowa; Hideki Harada
📂
Article
📅
1998
🏛
John Wiley and Sons
🌐
English
⚖ 90 KB
👁 1 views
Novel mutation of the myelin Po gene in
✍
Ikegami, Tohru; Ikeda, Hiroyuki; Mitsui, Tetsuo; Hayasaka, Kiyoshi; Ishii, Shoug
📂
Article
📅
1997
🏛
John Wiley and Sons
🌐
English
⚖ 15 KB
👁 2 views