Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

Hattori, Naoko; Yamamoto, Masahiko; Yoshihara, Tsuyoshi; Koike, Haruki; Nakagawa, Masayuki; Yoshikawa, Hiroshi; Ohnishi, Akio; Hayasaka, Kiyoshi; Onodera, Osamu; Baba, M.; Yasuda, H.; Saito, Tsubasa; Nakashima, Keigo; Kira, Jun‐ichi; Kaji, Ryuji; Oka, Nobuyuki; Sobue, Gen; Group for Hereditary Neuropathy, Study

doi:10.1093/brain/awg012

Public

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

Published in Brain • Dec 11, 2002

Authors:

Naoko Hattori

Masahiko Yamamoto

Tsuyoshi Yoshihara

Abstract

Three genes commonly causing Charcot-Marie-Tooth disease (CMT) encode myelin-related proteins: peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and connexin 32 (Cx32). Demyelinating versus axonal phenotypes are major issues in CMT associated with mutations of these genes. We electroph...

Subject

Connexin 32

Myelin

Pathology

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