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A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin

✍ Scribed by A. Kochanski; H. Drac; D. Kabzińska; I. Hausmanowa-Petrusewicz

Book ID: 116792151
Publisher: Elsevier Science
Year: 2004
Tongue: English
Weight: 250 KB
Volume: 14
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2003.12.001

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## Abstract Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (__MPZ__) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected c