X-linked myotubular myopathy in a neonate: a case report and literature review
BackgroundX-linked centronuclear myopathy (XLCNM) is a rare congenital neuromuscular disorder caused by pathogenic variants in MTM1, typically presenting with severe neonatal hypotonia, respiratory failure, and poor survival. Early diagnosis is essential for prognosis and genetic counseling, though...
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| Główni autorzy: | , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Frontiers Media S.A.
2026-03-01
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| Seria: | Frontiers in Pediatrics |
| Hasła przedmiotowe: | |
| Dostęp online: | https://www.frontiersin.org/articles/10.3389/fped.2026.1735095/full |
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