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Journal of the Korean Child Neurology Society 2004;12(1):43-49.
Published online May 30, 2004.
Large Scale Single Deletion of Mitochondrial DNA in Chronic Progressive External Ophthalmoplegia.
Kyung Nam Koh, Su Yeon Park, Hee Hwang, Jong Hee Chae, JI Eun Choi, Ki Joong Kim, Yong Seung Hwang
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. chaeped1@snu.ac.kr
Chronic progressive external ophtahlmoplegia(CPEO) is a common phenotype of mitochondrial myopathy. CPEO has wide clinical spectrum with variable severity and can be divided into 3 groups; Kearns-Sayre syndrome, ophthalmoplegia plus and isolated CPEO. Single large-scale deletion, multiple deletions, point mutation of muscle mitochondrial DNA(mtDNA) and nuclear gene defect are associated with CPEO. We reviewed two cases of CPEO associated with the gene defect of mtDNA. METHODS: mtDNA was extracted from muscle biopsy tissue and blood leukocytes. We carried out polymerase chain reaction(PCR), restriction fragment length polymorphism (RFLP) assay and automated sequencing of the mtDNA. RESULTS: Case 1 presented with progressive external ophthalmoplegia, short stature, hypothyroidism and sensorineural hearing loss. A novel 7.6 kb-deletion was found in muscle and leukocyte mtDNA. Case 2 presented with isolated CPEO. A novel 6.2 kb- deletion was found in muscle mtDNA. CONCLUSION: We detected novel single large-scale deletion of mtDNA in 2 cases of CPEO with various clinical manifestations in our population. We have to investigate multi-organ involvement with regular follow-up for patients who present with progressive ophthalmoplegia
Key Words: CPEO, Mitochondria, mtDNA, Deletion
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