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Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families

✍ Scribed by A. Mazzeo; M. Muglia; C. Rodolico; A. Toscano; A. Patitucci; A. Quattrone; C. Messina; G. Vita


Book ID
109338790
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
117 KB
Volume
118
Category
Article
ISSN
0001-6314

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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