학술논문
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
Document Type
article
Author
Source
International Journal of Molecular Sciences, Vol 24, Iss 9, p 8409 (2023)
Subject
Language
English
ISSN
1422-0067
1661-6596
1661-6596
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.