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Article

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

Neurology - 18 Nov 2008

Houlden H, Laura M, Wavrant-De Vrièze F, Blake J, Wood N, Reilly M M

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disorder and is characterized by significant clinical and genetic heterogeneity. Recently, mutations in both the small heat shock protein 27 (HSP27 or HSPB1) and 22 (HSP22 or HSPB8) genes have been reported to cause autosomal dominant CMT with minimal sensory involvement (CMT 2F/CMT2L) and autosomal dominant distal hereditary...

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Source

Identifiers

PMID: 18832141
DOI: 10.1212/01.wnl.0000319696.14225.67

Genes

HSPB1
HSPB8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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