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Article

[Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2020

Liu Yong, Ye Shuxin, Zhang Haiyan, Zhang Kaihui, Lyu Yuqiang, Gao Min, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a female patient featuring unstable head upright and hypotonia of limbs. METHODS: The child was examined clinically. Peripheral blood samples of the child, her parents and siblings were collected. Genomic DNA was extracted and subjected to next generation sequencing (NGS). Suspected variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: DNA...

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Source

Identifiers

PMID: 32335884
DOI: 10.3760/cma.j.issn.1003-9406.2020.05.014

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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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