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

A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function.

Neurology - 2 Sept 2014

Tsai Pei-Chien, Huang Yen-Hua, Guo Yuh-Cherng, Wu Hung-Ta, Lin Kon-Ping, Tsai Yu-Shuen, Liao Yi-Chu, Liu Yo-Tsen, Liu Tze-Tze, Kao Lung-Sen, Yet Shaw-Fang, Fann Ming-Ji, Soong Bing-Wen, Lee Yi-Chung

Abstract excerpt

OBJECTIVE: To describe a novel mutation in TRK-fused gene (TFG) as a new cause of dominant axonal Charcot-Marie-Tooth disease (CMT) identified by exome sequencing and further characterized by in vitro functional studies. METHODS: Exome sequencing and linkage analysis were utilized to investigate a large Taiwanese family with a dominantly inherited adult-onset motor and sensory axonal neuropathy in which mutations...

Read the complete abstract on PubMed

Topics

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

Share to Charcot-Marie-Tooth Disease
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Magnetic Resonance Imaging

Share to Metabolic Networks and Pathways

Share to Pedigree

Share to Proteins

Share to Taiwan

Source

Identifiers

PMID: 25098539
DOI: 10.1212/WNL.0000000000000758

Genes

TFG

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

A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function.PMID 25098539Read ↗

A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2.Semantic proximity Read ↗

TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration.Semantic proximity Read ↗

TFG-Related Neurologic Disorders: New Insights Into Relationships Between Endoplasmic Reticulum and Neurodegeneration.Semantic proximity Read ↗

DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.Semantic proximity Read ↗

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.Semantic proximity Read ↗

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.Semantic proximity Read ↗

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.Semantic proximity Read ↗

Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene.Semantic proximity Read ↗

A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.Semantic proximity Read ↗

[Molecular pathogenesis of hereditary motor and sensory neuropathy].Semantic proximity Read ↗

The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.Semantic proximity Read ↗

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