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Yingxiao Bao

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A Novel De Novo MTM1 Insertion Frameshift Variant Causes X-Linked Myotubular Myopathy in a Chinese Female

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By Lijun Chen, Gonglu Liu, Yingxiao Bao
| Wiley Online Library Verified
1 Introduction X-linked myotubular myopathy (XLMTM; OMIM #310400) is a congenital myopathy caused by pathogenic variants in the MTM1 gene, encoding myotubularin, a phosphoinositide phosphatase critical for muscle fiber maintenance and triad organization (Al-Qusairi et al. 2009; Laporte et al. 1996; Lawlor and Dowling 2021).
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