X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the <i>MTM1</i> Gene
oleh: Polina Chausova, Aysylu Murtazina, Anna Stepanova, Artem Borovicov, Valeriia Kovalskaia, Nina Ryadninskaya, Alena Chukhrova, Oxana Ryzhkova, Aleksander Poliakov
| Format: | Article |
|---|---|
| Diterbitkan: | MDPI AG 2023-05-01 |
Deskripsi
X-linked centronuclear myopathy is caused by pathogenic variants in the <i>MTM1</i> 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 <i>MTM1</i> gene.