Charcot-Marie-Tooth disease: New insights from skin biopsy
- MANGANELLI, FIORE
- PISCIOTTA, CHIARA
- PROVITERA, VINCENZO
- SANTORO, LUCIO
- Nolano, Maria
- Fabrizi, Gian M
- Cavallaro, Tiziana
- Stancanelli, Annamaria
- Caporaso, Giuseppe
- Shy, Michael E
- NOLANO, MARIA
Publication date
January 2015
DOI Publisher
Ovid Technologies (Wolters Kluwer Health)Abstract
To evaluate, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Charcot-Marie-Tooth (CMT) genotypes (CMT1A, late-onset CMT1B, and CMTX1), and rarer forms of CMT caused by mutations in RAB7 (CMT2B), TRPV4 (CMT2C), and GDAP1 (AR-CMT2K) genes
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