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Management of Leigh syndrome: Current status and new insights

Journal title
Clinical genetics
Publication year
2018
Author(s)
Chen, L.; Cui, Y.; Jiang, D.; Ma, C. Y.; Tse, H. F.; Hwu, W. L.; Lian, Q.
Pages
1131-1140
Volume
93
Number
6

Leigh syndrome (LS) is an inherited mitochondrial encephalopathy associated with gene mutations of oxidative phosphorylation pathway that result in early disability and death in affected young children. Currently, LS is incurable and unresponsive to many treatments, although some case reports indicate that supplements can improve the condition. Many novel therapies are being continuously tested in pre-clinical studies. In this review, we summarize the genetic basis of LS, current treatment, pre-clinical studies in animal models and the management of other mitochondrial diseases. Future therapeutical strategies and challenges are also discussed.

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