X-linked myotubular myopathy
Severe X-linked congenital muscle disease in male infants.
Last updated
X-linked myotubular myopathy (MTM) is a form of centronuclear myopathy caused by mutations in the myotubularin 1 gene. It predominantly affects male infants and is considered one of the most severe congenital muscle diseases. The condition is marked by profound muscle weakness, hypotonia, and difficulties with feeding and breathing.
Quick Facts
- Gene
- MTM1
- Chromosomal location
- Xq28
- Inheritance
- X-linked recessive
- Severity
- One of the most severe forms of congenital muscle disease
Facts from the source article.
Genetics
Mutations in the MTM1 gene on the long arm of the X chromosome (Xq28) cause this disorder. Males, having only one X chromosome, are at higher risk and most commonly affected.
Females are typically asymptomatic carriers due to a second wildtype copy of MTM1. However, a female may show clinical symptoms as a manifesting carrier, with problems appearing later in life, or through X-inactivation, where the wildtype copy is silenced and she presents congenitally. Girls with myopathy and centronuclear biopsy findings should be tested for MTM1 mutations.
Did You Know?
- Astellas Gene Therapies (formerly Audentes Therapeutics) is developing an experimental gene therapy for the condition.
- A clinical trial was halted after two boys died from liver inflammation and sepsis.
More in Myoneural Junction and Neuromuscular Diseases
Sources
Compiled from Wikipedia and the sources listed below. Text from Wikipedia is available under CC BY-SA 4.0; this entry is adapted from it.
- Wikipedia: X-linked myotubular myopathy (CC BY-SA 4.0).
- Word definitions: the Codexery glossary, each quoted from its Wikipedia article.
Spotted an error? Know more?
Reader corrections go straight into our review queue. Suggest an edit · How this site is sourced