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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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Publicado no: | Neurology |
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Main Authors: | , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Lippincott Williams & Wilkins
2015
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Assuntos: | |
Acesso em linha: | 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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