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Updated: Jul 26, 2025

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Extremely thinning ribs in severe congenital myopathy
1Department of Pediatrics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Abstract:
A full-term boy born with global hypotonia, weakness, and respiratory insufficiency was finally diagnosed as X-linked centronuclear myopathy by whole exome sequencing, with a mutation in the MTM1 gene encoding myotubularin. In addition to the typical phenotypes, the infant had a distinctive feature in his chest x-ray, extremely thinning ribs. This was presumably due to scarcely antepartum work of breathing and may be an important suggestive indicator for skeletal muscle conditions.
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