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Article

Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.

International journal of molecular medicine - 1 Oct 2001

Seeman P, Mazanec R, Ctvrtecková M, Smilková D

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is characterized by distal muscle weakness and wasting, often resulting in foot deformities and gait disturbances, distal sensory impairment and by more or less typical changes in sural nerve biopsy. CMT type 1 is also characterized by reduced nerve conduction velocities. For these demyelinating subtypes, most frequently a 1.5 Mb tandem duplication in chromosome 17p11.2-12...

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Source

Identifiers

PMID: 11562788

Genes

PMP22
GJB1

Provenance

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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