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.

Charcot-Marie-Tooth disease: New insights from skin biopsy / Manganelli, Fiore; Nolano, Maria; Pisciotta, Chiara; Provitera, Vincenzo; Fabrizi, Gian M; Cavallaro, Tiziana; Stancanelli, Annamaria; Caporaso, Giuseppe; Shy, Michael E; Santoro, Lucio; Nolano, Maria. - In: NEUROLOGY. - ISSN 0028-3878. - 85:14(2015), pp. 1202-8-1208. [10.1212/WNL.0000000000001993]

Charcot-Marie-Tooth disease: New insights from skin biopsy

MANGANELLI, FIORE;PISCIOTTA, CHIARA;PROVITERA, VINCENZO;SANTORO, LUCIO;NOLANO, MARIA
2015

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.
2015
Charcot-Marie-Tooth disease: New insights from skin biopsy / Manganelli, Fiore; Nolano, Maria; Pisciotta, Chiara; Provitera, Vincenzo; Fabrizi, Gian M; Cavallaro, Tiziana; Stancanelli, Annamaria; Caporaso, Giuseppe; Shy, Michael E; Santoro, Lucio; Nolano, Maria. - In: NEUROLOGY. - ISSN 0028-3878. - 85:14(2015), pp. 1202-8-1208. [10.1212/WNL.0000000000001993]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/611559
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