Inclusion body myopathy 2
Other Names for this Disease
- Distal myopathy with rimmed vacuoles
- GNE myopathy
- Hereditary inclusion body myopathy
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Inclusion body myopathy 2 is caused by mutations in the GNE gene. The GNE gene provides instructions for making an enzyme responsible for making sialic acid, a simple sugar that attaches to the ends of more complex molecules on the surface of cells. People with inclusion body myopathy 2 have lower levels of sialic acid on the surface of certain proteins that are important for muscle function. This shortage of sialic acid leads to the progressive muscle wasting and disability seen in patients with inclusion body myopathy 2. Researchers are currently working towards a better understanding of how this shortage of sialic acid leads to the progressive muscle weakness in people with this condition.
Last updated: 1/13/2014
- Inclusion body myopathy 2. Genetics Home Reference (GHR). December 2008; http://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2. Accessed 12/4/2012.
- About HIBM. Neuromuscular Disease Foundation. http://www.ndf-hibm.org/index.php/about-hibm. Accessed 12/4/2012.