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Natural history of six neonates with severe MTM1-related X-linked myotubular myopathy

Objective X-linked myotubular myopathy (XLMTM) caused by MTM1 gene variation is a rare neuromuscular disease. Currently, the systematic summary of the early natural history and diagnostic clinical characteristics of XLMTM patients in China is still incomplete. Methods We retrospectively reviewed cli...

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Príomhchruthaitheoir: HU Xiangsong, LIN Yating, ZHU Tianwen
Formáid: Artigo
Teanga:Chinês
Foilsithe / Cruthaithe: Editorial Office of Journal of Clinical Pediatrics 2026-02-01
Sraith:Linchuang erke zazhi
Ábhair:
Rochtain ar líne:https://jcp.xinhuamed.com.cn/fileup/1000-3606/PDF/1770018652870-1358503444.pdf
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