ArticleFrontiers in pediatrics2026
X-linked myotubular myopathy in a neonate: a case report and literature review.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Beyond Membrane Remodeling: Organelle Crosstalk and Convergent Pathology in Centronuclear Myopathy.Muscles (Basel, Switzerland) · 2026Review
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Authors and funding
2 authors.
Funding
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Abstract
Background: X-linked centronuclear myopathy (XLCNM) is a rare congenital neuromuscular disorder caused by pathogenic variants in Case presentation: We report a male infant, born at 38 + 1 weeks via cesarean section, who presented immediately after birth with apnea, cyanosis, hypotonia, and poor responsiveness. Despite resuscitation and intensive care for neonatal asphyxia and sepsis, he remained ventilator-dependent with persistent hypotonia and feeding difficulties. Laboratory evaluation showed anemia of chronic disease, hypoproteinemia, vitamin D insufficiency, and mild hepatic dysfunction. Imaging revealed laryngomalacia and a patent foramen ovale. Given the family history of neonatal death in a male sibling, whole-exome sequencing (WES) was performed and identified a hemizygous nonsense mutation in Conclusion: This case reveals the importance of early recognition and genetic diagnosis of XLCNM, particularly in neonates with unexplained hypotonia and a suggestive family history. Through our literature review, we emphasize the need for heightened clinical awareness, summarize current therapeutic and research advances, and discusses supportive strategies that may optimize survival and quality of life in affected infants.
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