- A Case of Early Onset MELAS Patient with Wolff-Parkinson-White Syndrome
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Kim JA, Ahn JM, Lee YM, Kang HC, Lee JS, Kim HD
- KMID: 2329491
- J Korean Child Neurol Soc.
- 2011 Dec;19(3):266-271.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the classic mitochondrial diseases characterized by symptoms of repeated episodes of hemiparesis with mitochondrial DNA mutation. We report... -
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- Mitochondrial Disorders
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Chae JH
- KMID: 2137157
- J Korean Child Neurol Soc.
- 2001 May;9(1):13-24.
No abstract available. -
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- Mitochondrial Disorders
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Woo YJ
- KMID: 1517104
- J Korean Pediatr Soc.
- 2003 Jul;46(Suppl 2):S340-S351.
No abstract available. -
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- Vascular Hyperemia and Crossed Cerebellar Diaschisis in MELAS Patient Presented as Stroke-Like Episode and Seizure
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Kim DW, Choi KH, Oh HJ, Kang M, Kim C, Choi HC, Sohn JH
- KMID: 2184752
- J Korean Neurol Assoc.
- 2013 Aug;31(3):183-185.
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the mitochondrial disorders that can present as a stroke-like episode or seizure. Although the pathophysiology of MELAS remains inconclusive,... -
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- Primary Pulmonary Hypertension as a Manifestation of Adult Multi-System Mitochondrial Disorder
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Finsterer
- KMID: 2396080
- Yonsei Med J.
- 2009 Apr;50(2):307-308.
No abstract available. -
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- Epilepsy, Reactive Oxygen Species and Mitochondria
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Kim WS
- KMID: 2177006
- J Korean Child Neurol Soc.
- 2005 May;13(1):1-7.
Epilepsy is a neurological disorder from many molecular and biochemical responses. In the underlying mechanism, reactive oxygen species play an important role in seizure initiation and seizure-induced brain damage. In... -
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- A Case of Kearns-Sayre Syudrome
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Yang HC, Choi WC
- KMID: 2205500
- J Korean Ophthalmol Soc.
- 1999 Mar;40(3):864-868.
Kearns-Sayer syndrome, a rare mitochondrial disorder, is composed of chronic progressive external ophthalmoplegia, atypical retinal pigmentation and complete heart block, and also causes numerous neurologic or endocrinologic symptoms. On muscle... -
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- A Case of Leigh Syndrome with Typical MRI and MRS Findings
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Kang JW, Kim JC, Cho PZ, Cho JH, Kim SM, Sunwoo IN
- KMID: 2137952
- J Korean Neurol Assoc.
- 2004 Oct;22(5):545-547.
Leigh syndrome (LS) is a genetically and clinically heterogeneous disorder caused by metabolic defects affecting lactate/pyruvate metabolism. The consequence of the metabolic defects are decreased amounts of APT and basic... -
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- A Case of MELAS Syndrome Manifested by Insulin-deficient Diabetes Mellitus
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Jeong HS, Kang JY, Kim H, Lee KH, Lee DS, Choi GY, Oh TG, Jeon HJ
- KMID: 1965999
- J Korean Endocr Soc.
- 2008 Dec;23(6):444-449.
- doi: 10.3803/jkes.2008.23.6.444
MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) syndrome is characterized by stroke-like episodes before the age of 40, encephalopathy, seizures, dementia and lactic acidosis, and is caused by mutations... -
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- A Case Report of MELAS Syndrome
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Lee TY, Hong DK, Lim SR, Heo K, Cho HK
- KMID: 2138123
- J Korean Neurol Assoc.
- 1993 Jun;11(2):254-260.
Mitochondnal encephalomyopathies are multisysternic diseases affecting predominantly the CNS and skeletal muscLes by mitochondrial dysfunction. Mitochondrial diseases include three distinct syndromes: mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS):... -
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- Mitochondrial Disorders
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Lee YM
- KMID: 1528177
- J Korean Child Neurol Soc.
- 2007 May;15(1):11-19.
Mitochondria contain respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce a main part of cellular energy in the form of ATP. Mitochondrial disorders occur either due to... -
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- Mitochondrial disorders
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Lee YM, Kim HD
- KMID: 2168068
- Hanyang Med Rev.
- 2005 Aug;25(3):12-18.
Mitochondria contain the respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce the majority of cellular energy in the form of ATP. Mitochondrial disorders are either due to... -
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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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- 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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- Ondine's Curse Consequent to Recurrent Respiratory Failure in a Man with Leber Hereditary Optic Neuropathy
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Ha S, An SG, Lee SA
- KMID: 2343097
- J Korean Neurol Assoc.
- 2004 Aug;22(4):414-417.
Leber's hereditary optic neuropathy (LHON) is a disease due to mitochondrial DNA mutations. We report a man with LHON, who presented with four episodes of respiratory failure. In the last... -
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- A Case of MELAS Syndrome Diagnosed in a Woman in Her 50s
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Hwang Y, Jeong JH, Kim YS, Cho J, Lee WJ, Park JY, Lee KU
- KMID: 1966887
- Korean J Med.
- 2011 Feb;80(2):225-230.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, abbreviated to MELAS, syndrome is a common mitochondrial disease that can present with a wide range of clinical symptoms, including seizures, stroke-like episodes,... -
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- Late-onset MELAS with Chronic Kidney Disease
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Choo IY, Lee EJ, Min YG, Kwon HM
- KMID: 2405987
- J Korean Neurol Assoc.
- 2017 Nov;35(4):237-239.
- doi: 10.17340/jkna.2017.4.12
Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is a multisystem mitochondrial disorder that typically presents in childhood. We report a case of MELAS syndrome diagnosed in a 45-year-old... -
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- 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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- The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
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Baek MS, Kim SH, Lee YM
- KMID: 2428283
- Yonsei Med J.
- 2019 Jan;60(1):98-105.
- doi: 10.3349/ymj.2019.60.1.98
PURPOSE: The disease entity mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by an early onset of stroke-like episodes. MELAS is the most dominant subtype of mitochondrial disease.... -
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- Lennox-Gastaut Syndrome in Mitochondrial Disease
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Lee S, Baek MS, Lee YM
- KMID: 2428284
- Yonsei Med J.
- 2019 Jan;60(1):106-114.
- doi: 10.3349/ymj.2019.60.1.106
PURPOSE: Previous studies have shown that neurologic symptoms are dominant in patients with mitochondrial diseases, and most of these patients have seizure-related disorders. The epileptic classification of these patients as... -
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