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Article

A family with IVIg-responsive Charcot-Marie-Tooth disease.

Journal of neurology - 1 Apr 2013

Miki Yasuo, Tomiyama Masahiko, Haga Rie, Nishijima Haruo, Suzuki Chieko, Kurihara Aiichiro, Sugimoto Kazuhiro, Hashiguchi Akihiro, Takashima Hiroshi, Baba Masayuki

Abstract excerpt

We report a family of intravenous immunoglobulin (IVIg)-responsive X-linked Charcot-Marie-Tooth disease Type 1 (CMT1X) with a novel gap junction protein 1 mutation. Two of three siblings in the family complained of subacute motor and sensory impairment, and their symptoms improved after the administration of IVIg. Additional IVIg treatment also resulted in similar improvement. The other also showed a mild...

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Identifiers

PMID: 23232577
DOI: 10.1007/s00415-012-6782-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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