- Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing
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Hong HD, Kim E, Nam SH, Yoo DH, Suh BC, Choi BO, Chung KW
- KMID: 2149854
- J Genet Med.
- 2015 Dec;12(2):109-117.
- doi: 10.5734/JGM.2015.12.2.109
PURPOSE: Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make their exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mitochondrial DNA (mtDNA) mutations... -
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- Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2013)
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Jang MA, Shin SY, Park S, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, The Korean Association of Quality Assurance for Clinical Laboratory
- KMID: 2200443
- J Lab Med Qual Assur.
- 2014 Jun;36(2):71-83.
Quality control for genetic tests has become more important as the test volume and clinical demands increase dramatically. The diagnostic genetics subcommittee of the Korean Association of Quality Assurance for... -
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- Genetics of Mitochondrial Myopathies
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Shin JH, Kim DS
- KMID: 2055574
- J Genet Med.
- 2013 Jun;10(1):20-26.
- doi: 10.5734/JGM.2013.10.1.20
Mitochondrion is an intracellular organelle with its own genome. Its function in cellular metabolism is indispensable that mitochondrial dysfunction gives rise to multisystemic failure. The manifestation is most prominent with... -
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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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- Clinical Spectrum and Prognostic Factors of Acute Necrotizing Encephalopathy in Children
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Seo HE, Hwang SK, Choe BH, Cho MH, Park SP, Kwon S
- KMID: 1778042
- J Korean Med Sci.
- 2010 Mar;25(3):449-453.
- doi: 10.3346/jkms.2010.25.3.449
This study was conducted to investigate the etiology, the clinical characteristics and prognosis of acute necrotizing encephalopathy (ANE) in Korean children. Six children (1 yr to 7 yr) patients with... -
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- Multiple Symmetric Lipomatosis with Peripheral Neuropathy: A case report
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Lee JY, Park YO, Yang HS, Kang EK, Lim MJ
- KMID: 2002670
- J Korean Acad Rehabil Med.
- 2004 Dec;28(6):622-626.
Multiple symmetric lipomatosis is a rare disorder characterized by massive fatty deposits arranged symmetrically around the neck, shoulder, abdomen and back. It is typically associated with high alcohol consumption and... -
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- Mitochondrial Intestinal Pseudo-Obstruction with Neurogenic Bladder Syndrome: Point Mutation at T8356C: A New Mitochondrial Disease?
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Yoon SS, Lee MS, Kim MH, Lee TG, Chang DI, Chung KC
- KMID: 2195081
- J Korean Neurol Assoc.
- 2003 Jun;21(3):311-314.
We describe a unique patient with progressive external ophthalmoplegia, intestinal pseudo-obstruction, and neurogenic bladder. Genetic study in this patient shows point mutation at T8356C, the locus known as that of... -
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- Histochemical and Molecular Genetic Study of MELAS and MERRF in Korean Patients
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Kim DS, Jung DS, Park KH, Kim IJ, Kim CM, Lee WH, Rho SK
- KMID: 2157603
- J Korean Med Sci.
- 2002 Feb;17(1):103-112.
- doi: 10.3346/jkms.2002.17.1.103
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode (MELAS) and myoclonic epilepsy and raggedred fibers (MERRF) are rare disorders caused by point mutation of the tRNA gene of the mitochondrial... -
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- Molecular Genetic Diagnosis in Korean Patients with Myoclonic Epilepsy with Ragged Red Fiber (MERRF) Syndrome
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Ko TS, Lee SA, Choe G, Yoo HW
- KMID: 1561831
- J Korean Pediatr Soc.
- 1998 Jul;41(7):941-952.
PURPOSE: Myoclonic epilepsy with ragged red fiber (MERRF) syndrome is a disease of the mitochondrial encephalomyopathies, characterized by progressive myoclonus (action), epilepsy, cerebellar ataxia, intention tremor, muscle weakness, progressive dementia,... -
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- Screening for Mitochondrial DNA Mutations of MELAS tRNA Leu(3243), MERRF tRNA Lys(8344) in Korean IDDM Patients
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Yoo HW
- KMID: 1529886
- J Korean Soc Pediatr Endocrinol.
- 1997 Sep;2(2):233-240.
An A to G mutation at nucleotide 3243 or 8344 of the mitochondrial genome has been associated with insulin dependent diabetes mellitus(IDDM) and noninsulin dependent diabetes mellitus(NIDDM) in some patients... -
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- A Case of Myoclonus Epilepsy and Ragged-red Fiber Syndrome
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Kim BG, Jeon BS
- KMID: 2342534
- J Korean Neurol Assoc.
- 1996 Jun;14(2):595-600.
Myoclonus epilepsy and ragged-red fiber (MERRF) syndrome is one of the common etiologies of progressive myoclonus epilepsy. The clinical features of MERRF syndrome are myoclonus, seizure, dementia, ataxia, neuropathy, myopathy,... -
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- Clinical Manifestations of Mitochondrial Diseases
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Kwon SU, Lee KH, Kim DE, Hwang YS, Chun YK, Chi JG, Lee KW
- KMID: 2066017
- J Korean Neurol Assoc.
- 1995 Dec;13(4):941-953.
According to the recently published reports about mitochondrial diseasbl the clinical manifestations are more various than expected. There have been no clinical studies covering whole spectrum of mitochond7iral disease except... -
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