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Article

Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.

Brain : a journal of neurology - 1 Oct 2017

Adriaenssens Elias, Geuens Thomas, Baets Jonathan, Echaniz-Laguna Andoni, Timmerman Vincent

Abstract excerpt

Small heat shock proteins are molecular chaperones that exert diverse cellular functions. To date, mutations in the coding regions of HSPB1 (Hsp27) and HSPB8 (Hsp22) were reported to cause distal hereditary motor neuropathy and Charcot-Marie-Tooth disease. Recently, the clinical spectrum of HSPB1 and HSPB8 mutations was expanded to also include myopathies. Here we provide an update on the molecular genetics and...

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Source

Identifiers

PMID: 28969372
DOI: 10.1093/brain/awx187

Genes

HSPB1
HSPB8

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.

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