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Article

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.

Neuromuscular disorders : NMD - 1 Aug 2013

Nakhro Khriezhanuo, Park Jin-Mo, Kim Ye Jin, Yoon Bo Ram, Yoo Jeong Hyun, Koo Heasoo, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous peripheral neuropathies. HSPB8 gene encodes heat shock protein 22 (HSP22) which belongs to the superfamily of small stress induced proteins. Mutations in HSPB8 are implicated to CMT2L and distal hereditary mo...

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Source

Identifiers

PMID: 23796487
DOI: 10.1016/j.nmd.2013.05.009

Genes

HSPB8
HSPB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23796487-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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