✦ LIBER ✦

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients; Irina V. Mersiyanova, Sookhrat M. Ismailov, Alexandr V. Polyakov, Elena L. Dadali, Valeriy P. Fedotov, Eva Nelis, Ann Löfgren, Vincent Timmerman, Christine Van Broeckhoven, and Oleg V. Evgrafov (Article was originally published in Human Mutation 15:340–347, 2000)

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 57 KB
Volume: 16
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200008)16:2<175::aid-humu10>3.0.co;2-n

No coin nor oath required. For personal study only.

✦ Synopsis

The authors wish to correct a mistake which occurred in the reporting of one of the mutations. The mutation in Cx32 Met34Lys is wrongly described as 100A>G. The correct description of the mutation should be 101T>A (Met34Lys).

📜 SIMILAR VOLUMES

Screening for mutations in the periphera

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

✍ Irina V. Mersiyanova; Sookhrat M. Ismailov; Alexandr V. Polyakov; Elena L. Dadal 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 255 KB 👁 2 views

## Communicated by Mark Paalman Charcot-Marie-Tooth disease (CMT) and related inherited peripheral neuropathies, including Dejerine-Sottas syndrome, congenital hypomyelination, and hereditary neuropathy with liability to pressure palsies (HNPP), are caused by mutations in three myelin genes: PMP22,