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[Clinical characteristics and genetic analysis of two children with X-linked Centronuclear myopathy due to variants of MTM1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2024

Wang Jin, Wang Dan, Li Tingting, Zeng Lingkong, Wang Shi

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of two newborns with Central nuclear myopathy (CNM). METHODS: Two newborns with CNM diagnosed clinically at Wuhan Children's Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology in April 2019 and November 2021 were selected as the study subjects, and their clinical data was collected. Both newborns and their...

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Identifiers

PMID: 38946363
DOI: 10.3760/cma.j.cn511374-20230606-00345

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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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