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Twenty-one-year follow-up of variable onset MELAS syndrome with heteroplasmic nt3243A>G mtDNA mutation: A case report

Song WJ, Lee YJ, Kang JW, Chang MY, Song KS, Kang DY, Kim SZ

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder of which m.3243A>G is the most commonly associated mutation, resulting in an inability to meet...
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Lennox-Gastaut Syndrome in Mitochondrial Disease

Lee S, Baek MS, Lee YM

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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The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Baek MS, Kim SH, Lee YM

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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Atypical Radiologic Manifestation of NARP Mimicking MELAS: a Case Report

Lee Y, Lee D, Hwang H

Neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a rare maternally inherited mitochondrial disorder. Radiologic findings in NARP syndrome are varied; they include cerebral and cerebellar atrophy, basal ganglia...
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Effects and Mechanisms of Taurine as a Therapeutic Agent

Schaffer S, Kim HW

Taurine is an abundant, β-amino acid with diverse cytoprotective activity. In some species, taurine is an essential nutrient but in man it is considered a semi-essential nutrient, although cells lacking...
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Age-Based Characteristics of West Syndrome in Patients with Mitochondrial Disease

Choi YH, Baek MS, Na JH, Kang HC, Lee JS, Kim HD, Lee YM

PURPOSE: West syndrome is a severe form of age-specific epilepsy that typically affects infants younger than 2 years of age with mitochondrial disease. We aimed to examine age-specific characteristics of...
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Ophthalmoplegia in Mitochondrial Disease

Lee SJ, Na JH, Han J, Lee YM

PURPOSE: To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease. MATERIALS AND METHODS: Among 372 patients with mitochondrial disease who visited our hospital between January 2006...
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Myocardial Layer-Specific Strain Analysis in Children with Mitochondrial Disease

Eun LY, Lee YM

PURPOSE: Children with mitochondrial disease (MD) have clinical phenotypes that are more severe than those found in adults. In this study, we assessed cardiac function in children with MD using...
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Kearns-sayre Syndrome Treated with Permanent Pacemaker Insertion for Complete Atrioventricular Block

Park EH, Her SH, Ha MA, Kim HS, Jang JH

Kearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder associated with progressive external ophthalmoplegia, atypical pigmentary degeneration of the retina, and complete heart block. KSS can lead to a risk...
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Gastroesophageal Reflux in Neurologically Impaired Children: What Are the Risk Factors?

Kim S, Koh H, Lee JS

BACKGROUND/AIMS: Neurologically impaired patients frequently suffer from gastrointestinal tract problems, such as gastroesophageal reflux disease (GERD). In this study, we aimed to define the risk factors for GERD in neurologically...
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Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?

Park S, Kang HC, Lee JS, Park YN, Kim S, Koh H

Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in...
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Late-onset MELAS with Chronic Kidney Disease

Choo IY, Lee EJ, Min YG, Kwon HM

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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Ultrastructural Changes in Skeletal Muscle of Infants with Mitochondrial Respiratory Chain Complex I Defects

Mun JY, Jung MK, Kim SH, Eom S, Han SS, Lee YM

BACKGROUND AND PURPOSE: The pathogenesis of mitochondrial disease (MD) involves the disruption of cellular energy metabolism, which results from defects in the mitochondrial respiratory chain complex (MRC). We investigated whether...
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Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review

An SJ, Kim SZ, Kim GH, Yoo HW, Lim HH

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in...
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Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension

Weitgasser L, Wechselberger G, Ensat F, Kaplan R, Hladik M

Blepharoptosis is a common indication for surgery in plastic surgery units, yet its possible underlying pathology frequently remains unidentified. A 52-year-old man with a 20-year history of progressive bilateral ptosis...
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Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing

Hong HD, Kim E, Nam SH, Yoo DH, Suh BC, Choi BO, Chung KW

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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Myocardial atrophy in children with mitochondrial disease and Duchenne muscular dystrophy

Lee TH, Eun LY, Choi JY, Kwon HE, Lee YM, Kim HD, Kang SW

PURPOSE: Mitochondrial disease (MD) and Duchenne muscular dystrophy (DMD) are often associated with cardiomyopathy, but the myocardial variability has not been isolated to a specific characteristic. We evaluated the left...
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Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease

Samuelsson K, Kostulas K, Vrethem M, Rolfs A, Press R

BACKGROUND AND PURPOSE: The etiology of small fiber neuropathy (SFN) often remains unclear. Since SFN may be the only symptom of late-onset Fabry disease, it may be underdiagnosed in patients...
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Epidemiological and Clinical Study of Scabies in Korea: Multicenter Retrospective Study

Park SY, Hong JS, Roh JY, Lee JY, Kim DW, Yoon TJ, Sim WY, Lee KS, Kye YC, Lee AY, Kim MB, Cho S, Moon KC, Yang JM, Lee ES, Lee WS, Lee MG, Park SD, Won YH, Shin BS, Hong CK, Lee J, Yoon TY, Kim KJ, Ro YS, Kim KH, Eun HC

  • KMID: 2246587
  • Korean J Dermatol.
  • 2013 Sep;51(9):678-684.
BACKGROUND: Scabies is one of the common skin diseases observed in developing countries. The incidence of scabies has decreased dramatically since the late 1980s in Korea. However, recent outbreaks in...
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Optimal trauma care system in Korea

Lee KH

Trauma is the leading cause of mortality and disability for Koreans under age 44. In Korea, 35.2% of trauma deaths are preventable. Currently, a trauma care system is just beginning...
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