X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic 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 c...

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Autores principales: Chausova, Polina, Murtazina, Aysylu, Stepanova, Anna, Borovicov, Artem, Kovalskaia, Valeriia, Ryadninskaya, Nina, Chukhrova, Alena, Ryzhkova, Oxana, Poliakov, Aleksander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179330/
https://www.ncbi.nlm.nih.gov/pubmed/37176116
http://dx.doi.org/10.3390/ijms24098409
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author Chausova, Polina
Murtazina, Aysylu
Stepanova, Anna
Borovicov, Artem
Kovalskaia, Valeriia
Ryadninskaya, Nina
Chukhrova, Alena
Ryzhkova, Oxana
Poliakov, Aleksander
author_facet Chausova, Polina
Murtazina, Aysylu
Stepanova, Anna
Borovicov, Artem
Kovalskaia, Valeriia
Ryadninskaya, Nina
Chukhrova, Alena
Ryzhkova, Oxana
Poliakov, Aleksander
author_sort Chausova, Polina
collection PubMed
description 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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spelling pubmed-101793302023-05-13 X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene Chausova, Polina Murtazina, Aysylu Stepanova, Anna Borovicov, Artem Kovalskaia, Valeriia Ryadninskaya, Nina Chukhrova, Alena Ryzhkova, Oxana Poliakov, Aleksander Int J Mol Sci Case Report 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. MDPI 2023-05-07 /pmc/articles/PMC10179330/ /pubmed/37176116 http://dx.doi.org/10.3390/ijms24098409 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Chausova, Polina
Murtazina, Aysylu
Stepanova, Anna
Borovicov, Artem
Kovalskaia, Valeriia
Ryadninskaya, Nina
Chukhrova, Alena
Ryzhkova, Oxana
Poliakov, Aleksander
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
title X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
title_full X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
title_fullStr X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
title_full_unstemmed X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
title_short X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
title_sort x-linked myotubular myopathy in a female patient with a pathogenic variant in the mtm1 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179330/
https://www.ncbi.nlm.nih.gov/pubmed/37176116
http://dx.doi.org/10.3390/ijms24098409
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