Article
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.
Brain : a journal of neurology - 1 Jan 2003
Hattori Naoki, Yamamoto Masahiko, Yoshihara Tsuyoshi, Koike Haruki, Nakagawa Masanori, Yoshikawa Hiroo, Ohnishi Akio, Hayasaka Kiyoshi, Onodera Osamu, Baba Masayuki, Yasuda Hitoshi, Saito Toyokazu, Nakashima Kenji, Kira Jun-ichi, Kaji Ryuji, Oka Nobuyuki, Sobue Gen
Abstract excerpt
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 electrophysiologically, pathologically and genetically evaluated demyelinating and axonal features of 205 Japanese patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.