Molecular diagnosis of Alpers syndrome.

Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK
Journal of hepatology (2006), Volume 45, Page 108
PubMed entry Publisher's site

Abstract:

Alpers syndrome is a developmental mitochondrial DNA depletion ...
Alpers syndrome is a developmental mitochondrial DNA depletion syndrome leading to fatal brain and liver disease in children and young adults. Mutations in the gene for the mitochondrial DNA polymerase (POLG) have recently been shown to cause this disorder.

Polymerases:

Human Pol gamma F749S,Human Pol gamma R852C,Human Pol gamma T914P,Human Pol gamma L966R,Human Pol gamma L1173fsX

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