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Article

[Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2022

Li Gang, Fu Jun, Pang Mi, Song Jia, Ma Mingming, Zhang Jiewen

Abstract excerpt

OBJECTIVE: To explore phenotypic and mutational characteristics of a pedigree with distal hereditary motor neuropathy (dHMN). METHODS: Clinical data of the proband and her family members was collected. Electrophysiology, muscle biopsy and whole exome sequencing were carried out for the proband. RESULTS: Patients of the family mainly presented with distal lower limb weakness. Electrophysiological test of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35773767
DOI: 10.3760/cma.j.cn511374-20210528-00450

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