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Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions
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참고문헌 (4)
- 이상준, "Ophthalmoplegia in Mitochondrial Disease", Yonsei Medical Journal, 59(10), pp.1190~1196 (2018), 연세대학교의과대학[DOI]
- Krishna MR, "Kearns Sayre Syndrome : looking beyond A-V conduction", Indian Pacing Electrophysiol J, 17, pp.78~80 (2017)
- Paramasivam A, "Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging", Mitochondrion, 26, pp.81~85 (2016)
- Finsterer J, "Kearns-Sayre syndrome is genetically and phenotypically heterogeneous", Pediatr Med Chir, 40, pp.193~ (2018)
관련 논문AI추천
The Author Reply: Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions이영목연세대학교의과대학 · Yonsei Medical Journal2019 · 제60권 제2호Clinical Features of Leber Hereditary Optic Neuropathy Carrying a Rare m.13051G>A Mitochondrial Mutation: A Case ReportHee Kyung Yang, Hyuna Kim, Jeong-Min Hwang, Moon-Woo Seong대한안과학회 · Korean Journal of Ophthalmology2025 · 제39권 제6호Ophthalmoplegia in Mitochondrial Disease나지훈, 이상준, 이영목, 한진우연세대학교의과대학 · Yonsei Medical Journal2018 · 제59권 제10호Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELASJosef Finsterer연세대학교의과대학 · Yonsei Medical Journal2019 · 제60권 제4호A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia박혜리, 유다혜, 이수정, 정기화, 최병옥, Sumaira Kanwal대한신경과학회 · Journal of Clinical Neurology2019 · 제15권 제3호Mitochondrial Retinopathy by MT-ATP6 Variant Revealed by Whole-Genome Sequencing: A Case ReportJaehwan Choi, Ja-Hyun Jang, Sang Jin Kim, Sungsoon Hwang대한안과학회 · Korean Journal of Ophthalmology2024 · 제38권 제4호
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