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A novel MPZ mutation in Charcot–Marie–Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies

✍ Scribed by Madoka Iida; Haruki Koike; Tetsuo Ando; Makoto Sugiura; Masahiko Yamamoto; Fumiaki Tanaka; Gen Sobue

Book ID: 116795196
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 375 KB
Volume: 22
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2011.08.005

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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