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Article

Neonatal X-linked myotubular myopathy with a de novo mutation: A case report and literature review.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Mar 2024

Hu Yong, Huang Xi

Abstract excerpt

X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy. In February 2021, a male neonate was admitted to the West China Second University Hospital, Sichuan University, with clinical manifestations of hypotonia, accompanied by distinctive facial features, and requiring continuous ventilatory support. He was born prematurely at 36+2 weeks gestation and developed respiratory distress postnatally,...

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Identifiers

PMID: 38970524
DOI: 10.11817/j.issn.1672-7347.2024.230450
PMCID: PMC11208411

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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