✦ LIBER ✦

Clinical, electrophysiological and pathological findings in a patient with Charcot–Marie–Tooth disease 4D caused by the NDRG1 Lom mutation

✍ Scribed by Luigetti, Marco; Taroni, Franco; Milani, Micaela; Del Grande, Alessandra; Romano, Angela; Bisogni, Giulia; Conte, Amelia; Contaldo, Ilaria; Mercuri, Eugenio; Sabatelli, Mario

Book ID: 127331346
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 457 KB
Volume: 345
Category: Article
ISSN: 0022-510X
DOI: 10.1016/j.jns.2014.07.042

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation in the dynamin 2 gene i

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: Clinical and pathological findings

✍ Marc Bitoun; Tanya Stojkovic; Bernard Prudhon; Claude-Alain Maurage; Philippe La 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 814 KB

Charcot–marie–tooth disease with interme

Charcot–marie–tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene

✍ Isabel Banchs; Carlos Casasnovas; Jordi Montero; Victor Volpini; Juan Antonio Ma 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 511 KB

## Abstract Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (__MPZ__) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected c