Charcot-Marie-Tooth disease type I and r
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M.L. Mostacciuolo; E. Righetti; M. Zortea; V. Bosello; F. Schiavon; L. Vallo; L.
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Article
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2001
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John Wiley and Sons
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English
⚖ 230 KB
Tooth neuropathy type 1 (CMT1), the most common hereditary neurological disorder in humans, is characterized by clinical and genetic heterogeneity. It is caused mainly by a 1.5 Mb duplication in 17p11.2, but also by mutations in the myelin genes PMP22 (peripheral myelin protein 22), MPZ (myelin prot