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

OBJECTIVE: 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. METHODS: We investigated axonal lo...

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Veröffentlicht in:Neurology
Hauptverfasser: Manganelli, Fiore, Nolano, Maria, Pisciotta, Chiara, Provitera, Vincenzo, Fabrizi, Gian M., Cavallaro, Tiziana, Stancanelli, Annamaria, Caporaso, Giuseppe, Shy, Michael E., Santoro, Lucio
Format: Artigo
Sprache:Inglês
Veröffentlicht: Lippincott Williams & Wilkins 2015
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4607598/
https://ncbi.nlm.nih.gov/pubmed/26362287
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001993
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