Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease.

Muscle & nerve - 1 Mar 2014

McKinney Jennifer L, De Los Reyes Emily C, Lo Warren D, Flanigan Kevin M

Abstract excerpt

INTRODUCTION: X-linked Charcot-Marie-Tooth (CMT1X) disease is caused by mutations in the GJB1 gene. We describe a young man who presented with recurrent central nervous symptoms and transient white matter changes in the setting of a novel mutation in the GJB1 gene. METHODS: Evaluation included clinical examination, neuroimaging, electrophysiological, and molecular genetic studies. RESULTS: Clinical examination on...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Central Nervous System
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Gap Junction beta-1 Protein

Share to Magnetic Resonance Imaging

Share to Nerve Fibers, Myelinated

Share to Neural Conduction

Share to Peripheral Nerves

Source

Identifiers

PMID: 24170412
DOI: 10.1002/mus.24108

Genes

GJB1

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease.PMID 24170412Read ↗

X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report.Semantic proximity Read ↗

Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report.Semantic proximity Read ↗

X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.Semantic proximity Read ↗

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report.Semantic proximity Read ↗

A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.Semantic proximity Read ↗

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease： cases reportSemantic proximity Read ↗

Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation.Semantic proximity Read ↗

[Episodic central nervous system symptoms with reversible white matter involvement in Chinese patients with X-linked Charcot-Marie-Tooth disease and literatures review].Semantic proximity Read ↗

The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults.Semantic proximity Read ↗

CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction.Semantic proximity Read ↗

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.