𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical spectrum and gender differences in a large cohort of Charcot–Marie–Tooth type 1A patients

✍ Scribed by Colomban, Cécile; Micallef, Joëlle; Lefebvre, Marie-Noëlle; Dubourg, Odile; Gonnaud, Pierre-Marie; Stojkovic, Tanya; Jouve, Elisabeth; Blin, Olivier; Pouget, Jean; Attarian, Shahram

Book ID
122140324
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
389 KB
Volume
336
Category
Article
ISSN
0022-510X

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Concurrence of dystonia 1 and Charcot-Ma
Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family
✍ Birgit Zirn; Christoph Korenke; Michael Wagner; Sabine Rudnik-Schöneborn; Ulrich 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 511 KB

encephalitis should be considered in patients with new onset unexplained dystonia. ## Legends to the Video Videotaped examination of the patient showing dystonic posturing of the left face, hand, and foot, and improvement after treatment.

Charcot-Marie-Tooth disease type I and r
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families
✍ M.L. Mostacciuolo; E. Righetti; M. Zortea; V. Bosello; F. Schiavon; L. Vallo; L. 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 230 KB

Tooth neuropathy type 1 (CMT1), the most common hereditary neurological disorder in humans, is characterized by clinical and genetic heterogeneity. It is caused mainly by a 1.5 Mb duplication in 17p11.2, but also by mutations in the myelin genes PMP22 (peripheral myelin protein 22), MPZ (myelin prot