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Article

Coexistent hereditary and inflammatory neuropathy

16 Dec 2003

Abstract excerpt

Classically, the course of Charcot-Marie-Tooth (CMT) disease is gradually progressive. We describe eight atypical patients who developed acute or subacute deterioration. Seven of these had genetically proven CMT disease type 1A (CMT1A) due to chromosome 17p11.2-12 duplication, and one had X-linked disease (CMTX) due to a mutation in the GJB1 gene. In this group there was sufficient clinical, electrophysiological...

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PMID: 14607795
DOI: 10.1093/brain/awh017

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