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Article

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

Neuromuscular disorders : NMD - 1 Feb 2012

Iida Madoka, Koike Haruki, Ando Tetsuo, Sugiura Makoto, Yamamoto Masahiko, Tanaka Fumiaki, Sobue Gen

Abstract excerpt

Charcot-Marie-Tooth type 1B (CMT1B) is a demyelinating neuropathy caused by mutations in the myelin protein zero (MPZ) gene. Here, we describe a patient with CMT1B with focally folded myelin, a rarely reported phenotype of CMT1B, who initially presented with multiple entrapment neuropathies. She complained of palmar dysesthesia on both sides and on both soles of her feet in her 30's. She underwent bilateral...

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Identifiers

PMID: 21940171
DOI: 10.1016/j.nmd.2011.08.005

Genes

MPZ

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