✦ LIBER ✦

Novel mutations of the peripheral myelin protein22 gene in two pedigrees with Dejerine-Sottas disease

✍ Scribed by Tohru Ikegami; Hiroyuki Ikeda; Masahiro Aoyama; Takasumi Matsuki; Tsuyoshi Imota; Yasuo Fukuuchi; Takahiro Amano; Itaru Toyoshima; Yoshihito Ishihara; Hiroyuki Endoh; K. Hayasaka

Book ID: 106136908
Publisher: Springer
Year: 1998
Tongue: English
Weight: 148 KB
Volume: 102
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050694

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Dejerine–Sottas syndrome associated with

Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

✍ Roa, Benjamin B.; Dyck, Peter J.; Marks, Harold G.; Chance, Phillip F.; Lupski, 📂 Article 📅 1993 🏛 Nature Publishing Group 🌐 English ⚖ 577 KB

Dejerine-Sottas disease with a novel de

Dejerine-Sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22

✍ A. Ohnishi; T. Yamamoto; K. Izawa; S. Yamamori; K. Takahashi; H. Mega; K. Jinnai 📂 Article 📅 2000 🏛 Springer-Verlag 🌐 English ⚖ 428 KB

Four novel point mutations in the PMP22

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine–Sottas neuropathy

✍ Dana Brožková; Radim Mazanec; Zdeněk Rychlý; Jana Haberlová; Jiří Böhm; Jan Stan 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 350 KB

## Abstract We report four novel point mutations in the __PMP22__ gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine–Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320‐1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our fi

New mutation of the MPZ gene in a family

New mutation of the MPZ gene in a family with the Dejerine–Sottas disease phenotype

✍ Paraskewi Floroskufi; Marios Panas; Georgia Karadima; Demetris Vassilopoulos 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 61 KB

De novo mutation of the myelin Po gene i

De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)

✍ Hayasaka, Kiyoshi; Himoro, Masato; Sawaishi, Yukio; Nanao, Kenji; Takahashi, Tsu 📂 Article 📅 1993 🏛 Nature Publishing Group 🌐 English ⚖ 327 KB

Déjérine-Sottas neuropathy associated wi

Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene

✍ Sylvia Bort; Teresa Sevilla; Javier García-Planells; David Blesa; Nuria Paricio; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 351 KB