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;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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11588/611559
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