𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mild phenotype of Charcot–Marie–Tooth disease type 4B1

✍ Scribed by Murakami, Tatsufumi; Kutoku, Yumiko; Nishimura, Hirotake; Hayashi, Makiko; Abe, Akiko; Hayasaka, Kiyoshi; Sunada, Yoshihide


Book ID
121777449
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
724 KB
Volume
334
Category
Article
ISSN
0022-510X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Atypical phenotype of Charcot–Marie–Toot
✍ Tatsufumi Murakami; Hiroyuki Oomori; Akio Hara; Eiichiro Uyama; Shuji Mita; Mako 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 128 KB 👁 1 views

Two sisters with a Charcot-Marie-Tooth disease type 1A (CMT1A) duplication, who had an unusual CMT1A clinical phenotype, are described. The 63-year-old proband presented with dysesthesia on the inner side of the right leg. Neurological examination revealed a localized sensory disturbance in the lowe

Ultrastructural protein zero expression
✍ Philippe Sindou; Jean-Michel Vallat; Françoise Chapon; Juan-José Archelos; Franç 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 205 KB 👁 1 views

Charcot-Marie-Tooth type 1B (CMT 1B) disease, an inherited demyelinating peripheral neuropathy, results from different point mutations located in the P0 gene on chromosome 1 q21-23. We have quantified, at the ultrastructural level, the immunocytochemical expression of the P0 protein in two unrelated