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

[Distal hereditary motor neuropathy type II with mutation in heat shock protein 27 gene. A case report].

Rinsho shinkeigaku = Clinical neurology - 1 Jan 2007

Nishibayashi Momoka, Kokubun Norito, Nakamura Arata, Hirata Koichi, Yamamoto Masahiko, Sobue Gen

Abstract excerpt

A 48-year-old man was admitted to our hospital with a tendency to stumble during walking. The family history indicated that the father was diagnosed with Charcot-Marie-Tooth disease (CMT) at the age of 55 and his younger sister (aunt) had similar symptoms that were considered to reflect autosomal dominant inheritance. Examination showed no pes cavus or inverted champagne-bottle thighs. In addition, the patient...

Read the complete abstract on PubMed

Topics

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

Share to Heat-Shock Proteins
Share to Hereditary Sensory and Motor Neuropathy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Identifiers

PMID: 17491338

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

[Distal hereditary motor neuropathy type II with mutation in heat shock protein 27 gene. A case report].PMID 17491338Read ↗

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

[Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease].Semantic proximity Read ↗

Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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

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

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.Semantic proximity Read ↗

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

Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.Semantic proximity Read ↗

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

[Analysis of the pathological features and gene mutations of Chinese patients with Charcot-Marie-Tooth disease].Semantic proximity Read ↗

Overexpression of mutant HSP27 causes axonal neuropathy in mice.Semantic proximity Read ↗

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

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