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 family with distal hereditary motor neuropathy and a K141Q mutation of small heat shock protein HSPB1.

Internal medicine (Tokyo, Japan) - 1 Jan 2014

Maeda Kengo, Idehara Ryo, Hashiguchi Akihiro, Takashima Hiroshi

Abstract excerpt

We herein describe a Japanese family with distal hereditary motor neuropathy carrying a K141Q mutation of small heat shock protein HSPB1. Two patients among them had late onset disease (older than 50 years). The muscles of the distal legs were weak and atrophic. Sensory and autonomic dysfunction were not seen. Even eight years after onset, one patient could still walk without support. A nerve conduction study...

Read the complete abstract on PubMed

Topics

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

Share to Biomarkers, Tumor
Share to DNA
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heat-Shock Proteins

Share to HSP27 Heat-Shock Proteins

Share to Molecular Chaperones

Share to Muscular Atrophy, Spinal

Share to Pedigree

Source

Identifiers

PMID: 25088881
DOI: 10.2169/internalmedicine.53.2843

Genes

HSPB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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 family with distal hereditary motor neuropathy and a K141Q mutation of small heat shock protein HSPB1.PMID 25088881Read ↗

Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea.Semantic proximity Read ↗

Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.Semantic proximity Read ↗

A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation.Semantic proximity Read ↗

HSPB1 mutation causing distal Hereditary Motor Neuropathy type 2B in a Polish family.Semantic proximity Read ↗

Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1.Semantic proximity Read ↗

Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.Semantic proximity Read ↗

Small Heat Shock Proteins and Distal Hereditary Neuropathies.Semantic proximity Read ↗

Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation.Semantic proximity Read ↗

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.Semantic proximity Read ↗

Neuronal diseases: small heat shock proteins calm your nerves.Semantic proximity Read ↗

Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27).Semantic proximity Read ↗

[Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene].Semantic proximity Read ↗

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