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Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in thePMP22gene, coexisting with a slowly progressive hearing impairment

✍ Scribed by D. Kabzińska; E. Sinkiewicz-Darol; I. Hausmanowa-Petrusewicz; A. Kochański

Publisher: Springer-Verlag
Year: 2010
Tongue: English
Weight: 832 KB
Volume: 51
Category: Article
ISSN: 1234-1983
DOI: 10.1007/bf03195729

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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