X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
Abstract
:1. Introduction
2. General Characteristics of the Family and Examination Methods
3. Results
3.1. Clinical Data
3.2. Molecular Genetic Analysis
4. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Chausova, P.; Murtazina, A.; Stepanova, A.; Borovicov, A.; Kovalskaia, V.; Ryadninskaya, N.; Chukhrova, A.; Ryzhkova, O.; Poliakov, A. X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene. Int. J. Mol. Sci. 2023, 24, 8409. https://doi.org/10.3390/ijms24098409
Chausova P, Murtazina A, Stepanova A, Borovicov A, Kovalskaia V, Ryadninskaya N, Chukhrova A, Ryzhkova O, Poliakov A. X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene. International Journal of Molecular Sciences. 2023; 24(9):8409. https://doi.org/10.3390/ijms24098409
Chicago/Turabian StyleChausova, Polina, Aysylu Murtazina, Anna Stepanova, Artem Borovicov, Valeriia Kovalskaia, Nina Ryadninskaya, Alena Chukhrova, Oxana Ryzhkova, and Aleksander Poliakov. 2023. "X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene" International Journal of Molecular Sciences 24, no. 9: 8409. https://doi.org/10.3390/ijms24098409