MTM1
myotubularin 1
Normal Function
Health Conditions Related to Genetic Changes
X-linked myotubular myopathy
More than 200 mutations in the MTM1 gene have been found to cause X-linked myotubular myopathy. Some MTM1 gene mutations change one of the protein building blocks (amino acids) in myotubularin, while other mutations result in an abnormally short, nonfunctional enzyme. The MTM1 gene mutations that prevent the production of any functional myotubularin tend to result in a more severe disease. Individuals who are mildly affected tend to have an MTM1 mutation that allows some functional myotubularin to be produced.
Mutations in the MTM1 gene are thought to disrupt myotubularin's role in muscle cell development and maintenance, causing muscle weakness and other signs and symptoms of X-linked myotubular myopathy.
More About This Health ConditionRelated Conditions
X-linked myotubular myopathy
Health Conditions Related to Genetic Changes
More than 200 mutations in the MTM1 gene have been found to cause X-linked myotubular myopathy. Some MTM1 gene mutations change one of the protein building blocks (amino acids) in myotubularin, while other mutations result in an abnormally short, nonfunctional enzyme. The MTM1 gene mutations that prevent the production of any functional myotubularin tend to result in a more severe disease. Individuals who are mildly affected tend to have an MTM1 mutation that allows some functional myotubularin to be produced.
Mutations in the MTM1 gene are thought to disrupt myotubularin's role in muscle cell development and maintenance, causing muscle weakness and other signs and symptoms of X-linked myotubular myopathy.