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

Polina Chausova; Aysylu Murtazina; Anna Stepanova; Artem Borovicov; Valeriia Kovalskaia; Nina Ryadninskaya; Alena Chukhrova; Oxana Ryzhkova; Aleksander Poliakov

doi:10.3390/ijms24098409

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

Int J Mol Sci. 2023 May 7;24(9):8409. doi: 10.3390/ijms24098409.

Authors

Polina Chausova¹, Aysylu Murtazina¹, Anna Stepanova¹, Artem Borovicov¹, Valeriia Kovalskaia¹, Nina Ryadninskaya¹, Alena Chukhrova¹, Oxana Ryzhkova¹, Aleksander Poliakov¹

Affiliation

¹ Research Centre for Medical Genetics, Moskvorechie Str. 1, 115522 Moscow, Russia.

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 myotubular myopathy in a female carrier of a pathogenic c.1261-10A>G variant in the MTM1 gene.

Keywords: MTM1; X-linked centronuclear myopathy; congenital myopathy.

Publication types

Case Reports

MeSH terms

Female
Humans
Male
Muscle, Skeletal / pathology
Myopathies, Structural, Congenital* / genetics
Myopathies, Structural, Congenital* / pathology
Protein Tyrosine Phosphatases, Non-Receptor* / genetics

Substances

Protein Tyrosine Phosphatases, Non-Receptor
myotubularin

Grants and funding

This research received no external funding.