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.
Subject
Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis
Reference27 articles.
1. X-linked myotubular myopathy: A prospective international natural history study;Annoussamy;Neurology,2019
2. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway;Blondeau;Hum. Mol. Genet.,2000
3. X-linked myotubular myopathy;Lawlor;Neuromuscul. Disord.,2021
4. Gómez-Oca, R., Cowling, B.S., and Laporte, J. (2021). Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances. Int. J. Mol. Sci., 22.
5. (2022, February 10). The Human Gene Mutation Database, v.20.19.4. Available online: https://portal.biobase-international.com.