X-linked centronuclear myopathy is caused by pathogenic variants in the 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 gene.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179330 | PMC |
| http://dx.doi.org/10.3390/ijms24098409 | DOI Listing |
Publication Analysis
Top Keywords
x-linked myotubular
8
myotubular myopathy
8
myopathy female
8
variant gene
8
myopathy
4
female patient
4
patient pathogenic
4
pathogenic variant
4
gene x-linked
4
x-linked centronuclear
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!