✦ LIBER ✦

NovelINF2mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy

✍ Scribed by Rodriguez, Patricia Q.; Lohkamp, Bernhard; Celsi, Gianni; Mache, Christoph Johannes; Auer-Grumbach, Michaela; Wernerson, Annika; Hamajima, Nobuyuki; Tryggvason, Karl; Patrakka, Jaakko

Book ID: 118786467
Publisher: Springer
Year: 2012
Tongue: English
Weight: 427 KB
Volume: 28
Category: Article
ISSN: 0931-041X
DOI: 10.1007/s00467-012-2299-1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation Testing in Charcot-Marie-Tooth

Mutation Testing in Charcot-Marie-Tooth Neuropathy

✍ GARTH A. NICHOLSON 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 416 KB

Further evidence of a duplication in 17p

Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia)

✍ Elisabetta Müller; Maria Luisa Mostacciuolo; Gianfranco Micaglio; Corrado Angeli 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 418 KB

Five Italian families with recurrence of cases of Charcot-Marie-Tooth disease (type Ia) were analysed using three closely linked DNA probes that detect polymorphisms in the region 17p11.2. The probe pVAW409R3 detected the presence of a duplication in all the affected subjects, but not in the subject

C.P.4.08 Screening for mutations in the

C.P.4.08 Screening for mutations in the dynamin 2 gene in Brazilian patients with centronuclear myopathy and Charcot-Marie-Tooth neuropathy

✍ K. Sell; L. Yamamoto; F. Velloso; A. Cerqueira; E. Zanoteli; L. Chimelli; F. Kas 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 62 KB

A point mutation in the human connexin32

A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany

✍ Carsten Bergmann; J.Michael Schröder; Sabine Rudnik-Schöneborn; Klaus Zerres; Ja 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 41 KB

Phenotypic Variability in a Large Czech

Phenotypic Variability in a Large Czech Family with a Dynamin 2–Associated Charcot-Marie-Tooth Neuropathy

✍ Haberlová, J.; Mazanec, R.; Ridzoň, P.; Baránková, L.; Nürnberg, G.; Nürnberg, P 📂 Article 📅 2011 🏛 Informa plc 🌐 English ⚖ 302 KB

Neuropathy progression in Charcot-Marie-

Neuropathy progression in Charcot-Marie-Tooth disease type 1A

✍ Shy, M. E.; Chen, L.; Swan, E. R.; Taube, R.; Krajewski, K. M.; Herrmann, D.; Le 📂 Article 📅 2008 🏛 Lippincott Williams and Wilkins 🌐 English ⚖ 263 KB