Article
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
Molecular genetics and metabolism - 1 Mar 2010
El-Hattab Ayman W, Li Fang-Yuan, Schmitt Eric, Zhang Shulin, Craigen William J, Wong Lee-Jun C
Abstract excerpt
Mitochondrial DNA depletion syndromes are autosomal recessive diseases characterized by a severe decrease in mitochondrial DNA content leading to dysfunction of the affected organ. They are phenotypically heterogeneous and classified as myopathic, encephalomyopathic, or hepatocerebral. The latter group has been associated with mutations in TWINKLE,POLG1, DGUOK genes and recently with mutations in the MPV17 gene....
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