Article
Exploring the structural insights on human laforin mutation K87A in Lafora disease--a molecular dynamics study.
Applied biochemistry and biotechnology - 1 Oct 2013
Srikumar P S, Rohini K
Abstract excerpt
Lafora disease (LD) is an autosomal recessive, progressive form of myoclonus epilepsy which affects worldwide. LD occurs mainly in countries like southern Europe, northern Africa, South India, and in the Middle East. LD occurs with its onset mainly in teenagers and leads to decline and death within 2 to 10 years. The genes EPM2A and EPM2B are commonly involved in 90 % of LD cases. EPM2A codes for protein laforin...
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