- A MELAS syndrome family harboring two mutations in mitochondrial genome
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Choi BO, Hwang JH, Kim J, Cho EM, Cho SY, Hwang SJ, Lee HW, Kim SJ, Chung KW
- KMID: 756338
- Exp Mol Med.
- 2008 Jun;40(3):354-360.
- doi: 10.3858/emm.2008.40.3.354
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous mitochondrial disorder with variable clinical symptoms. Here, from the sequencing of the entire mitochondrial genome, we... -
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- Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases
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Choi BO, Hwang JH, Cho EM, Jeong EH, Hyun YS, Jeon HJ, Seong KM, Cho NS, Chung KW
- KMID: 1078360
- Exp Mol Med.
- 2010 Jun;42(6):446-455.
- doi: 10.3858/emm.2010.42.6.046
Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make the exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mtDNA mutations in 61 Korean... -
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