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

[Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a mutation in TFG].

Rinsho shinkeigaku = Clinical neurology - 1 Jan 2013

Ishiura Hiroyuki, Tsuji Shoji

Abstract excerpt

Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal dominant neurodegenerative disease characterized by proximal predominant weakness and muscle atrophy accompanied by distal sensory disturbance. Linkage analysis using 4 families identified a region on chromosome 3 showing a LOD score exceeding 4. Further refinement of candidate region was performed by haplotype...

Read the complete abstract on PubMed

Topics

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

Share to Hereditary Sensory and Motor Neuropathy
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Proteins

Source

Identifiers

PMID: 24291930
DOI: 10.5692/clinicalneurol.53.1203

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

[Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a mutation in TFG].PMID 24291930Read ↗

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

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

HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry.Semantic proximity Read ↗

Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations.Semantic proximity Read ↗

Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.Semantic proximity Read ↗

Proximal Dominant Hereditary Motor and Sensory Neuropathy with TFG Mutation: First Case Report from India.Semantic proximity Read ↗

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

[Genetic distribution in Chinese patients with hereditary peripheral neuropathy].Semantic proximity Read ↗

Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.Semantic proximity Read ↗

Evidence of TRK-Fused Gene (TFG1) function in the ubiquitin-proteasome system.Semantic proximity Read ↗

A new type of hereditary motor and sensory neuropathy linked to chromosome 3Semantic proximity Read ↗

Novel DYSF mutations in Thai patients with distal myopathy.Semantic proximity Read ↗

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