期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 24, 期 9, 页码 -出版社
MDPI
DOI: 10.3390/ijms24098409
关键词
X-linked centronuclear myopathy; MTM1; congenital myopathy
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.
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