4.7 Article

X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene

期刊

出版社

MDPI
DOI: 10.3390/ijms24098409

关键词

X-linked centronuclear myopathy; MTM1; congenital myopathy

向作者/读者索取更多资源

This study presents a case of X-linked centronuclear myopathy in a female carrier with a pathogenic c.1261-10A>G variant in the MTM1 gene.
X-linked centronuclear myopathy is caused by pathogenic variants in the MTM1 gene, which encodes myotubularin, a phosphatidylinositol 3-phosphate (PI3P) phosphatase. This form of congenital myopathy predominantly affects males. This study presents a case of X-linked myotubular myopathy in a female carrier of a pathogenic c.1261-10A>G variant in the MTM1 gene.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.7
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据