X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
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DOI: 10.3390/ijms24098409
Abstract: 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… read more here.
Keywords: variant mtm1; linked myotubular; myopathy female; myotubular myopathy ... See more keywords