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

✍ Scribed by K. Sell; L. Yamamoto; F. Velloso; A. Cerqueira; E. Zanoteli; L. Chimelli; F. Kashiwagi; M. Zatz; M. Vainzof


Book ID
116793246
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
62 KB
Volume
17
Category
Article
ISSN
0960-8966

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## 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,

Screening for mutations in the periphera
πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 57 KB πŸ‘ 2 views

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).