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Article

A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.

Brain and behavior - 1 Aug 2017

Amornvit Jakkrit, Yalvac Mehmet E, Chen Lei, Sahenk Zarife

Abstract excerpt

INTRODUCTION: Mutations in the HSPB1 gene encoding the small heat shock protein B1 are associated with an autosomal dominant, axonal form of Charcot-Marie-Tooth disease 2F (CMT2F) and distal hereditary motor neuropathy. Recently, distal myopathy had been described in a patient carrying HSPB1 mutation adding to the complexity of phenotypes resulting from HSPB1 mutations. METHODS: Five patients in a family with...

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Source

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Identifiers

PMID: 28828227
DOI: 10.1002/brb3.774
PMCID: PMC5561327

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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