The group focuses on studying the pathological mechanisms of mitochondrial deoxyribonucleic acid (mtDNA) mutations associated with neuromuscular syndromes. From approaches in the fields of genetics and biochemistry, the group is particularly working on understanding the pathogenic mechanisms involved in mtDNA structural gene mutations, as well as the cell compensation mechanisms in mtDNA depletion syndrome. In addition, genetic and molecular research is also being conducted into different neurological syndromes and type V glycogen storage disease.

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