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Article

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

Journal of the neurological sciences - 15 Feb 2009

Ikeda Yoshihisa, Abe Akiko, Ishida Chiho, Takahashi Kazuya, Hayasaka Kiyoshi, Yamada Masahito

Abstract excerpt

We report a Japanese family with distal hereditary motor neuronopathy type II (distal HMN II) due to a novel K141Q mutation in heat-shock 27-kDa protein 1 gene (HSPB1/HSP27). A 47-year-old man (proband) with diabetes mellitus (DM) developed distal wasting and weakness of the legs and severe autonomic dysfunctions in his early forties, while his father and grandfather, without DM, demonstrated slowly progressive...

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Source

Identifiers

PMID: 18952241
DOI: 10.1016/j.jns.2008.09.031

Genes

HSPB1

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.

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