1.
Int J Mol Sci
; 24(9)2023 May 07.
Artículo
en Inglés
| MEDLINE
| ID: mdl-37176116
RESUMEN
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.