𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Charcot–Marie–Tooth disease type 2J withMPZThr124Met mutation: clinico-electrophysiological and MRI study of a family

✍ Scribed by Elena Gallardo; Antonio García; César Ramón; Elías Maraví; Jon Infante; Itziar Gastón; Ángel Alonso; Onofre Combarros; Peter De Jonghe; José Berciano


Publisher
Springer
Year
2009
Tongue
English
Weight
482 KB
Volume
256
Category
Article
ISSN
0340-5354

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Charcot-Marie-Tooth disease type I and r
✍ 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

Clinical and pathological phenotype of t
✍ Dr. Thomas D. Bird; George H. Kraft; Hillary P. Lipe; Kimbra L. Kenney; S. Mark 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 774 KB

Charcot-Marie-Tooth type 1B is an uncommon form of hereditary motor and sensory neuropathy caused by mutations in the Po myelin protein gene on chromosome 1. We report here a 20-year observation of 13 members of the first family with Charcot-Marie-Tooth disease to demonstrate linkage to chromosome 1

A Recurrent loss-of-function alanyl-tRNA
✍ Heather M. McLaughlin; Reiko Sakaguchi; William Giblin; NIH Intramural Sequencin 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 426 KB 👁 1 views

Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of peripheral neuropathies characterized by muscle weakness and wasting, and impaired sensation in the extremities. Four genes encoding an aminoacyl-tRNA synthetase (ARS) have been implicated in CMT disease. ARSs are ubiquitously expr