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Article

Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation in HSPB1 Gene: A Case Series.

Biomolecules - 27 Sept 2022

Shen Xiya, Zhang Jiawei, Zhan Feixia, Tian Wotu, Jiang Qingqing, Luan Xinghua, Zhang Xiaojie, Cao Li

Abstract excerpt

Mutations in HSPB1 are known to cause Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN). In this study, we presented three patients with mutation in HSPB1 who were diagnosed with dHMN. Proband 1 was a 14-year-old male with progressive bilateral lower limb weakness and walking difficulty for four years. Proband 2 was a 65-year-old male with chronic lower limb weakness and...

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Identifiers

PMID: 36291591
DOI: 10.3390/biom12101382
PMCID: PMC9599773

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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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