- 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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- Anesthetic Management of a Patient with Mitochondrial Myopathy Undergoing Orthopedic Surgery
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Koo BS, Kim MJ, Lee MS
- KMID: 2317698
- Soonchunhyang Med Sci.
- 2013 Jun;19(1):38-41.
Mitochondria myopathies consist of large heterogeneous groups of disorders resulting from primary dysfunction of the mitochondrial respiratory chain and causing muscle disease. These disorders involve the multiple organ system and... -
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- 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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- A Case of Mitochondrial Myopathy With Cardiac Involvement
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Son SW, Kim DB, Kwon BJ, Jang SW, Cho EJ, Park CH, Kim DB, Shin JY, Rho TH, Kim JH
- KMID: 1776350
- Korean Circ J.
- 2008 Sep;38(9):491-494.
- doi: 10.4070/kcj.2008.38.9.491
Mitochondrial myopathy is a disease caused by structural, biochemical or genetic disturbance of the mitochondria and this affects many organs, and it may also involve the cardiac muscles. We experienced... -
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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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- Mitochondrial myopathy of the lip muscles in the cleft palate patient
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Kim SW
- KMID: 1684518
- J Korean Soc Plast Reconstr Surg.
- 1993 Nov;20(6):1211-1215.
No abstract available. -
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- Enzyme histochemical study of germanium dioxide-induced mitochondrial myopathy in rats
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Yim SY, Lee IY, Kim TS
- KMID: 1099881
- Yonsei Med J.
- 1999 Feb;40(1):69-75.
- doi: 10.3349/ymj.1999.40.1.69
The purpose of this study were 1) to determine the earliest pathological changes of germanium dioxide (GeO2)-induced myopathy; 2) to determine the pathomechanism of GeO2-induced myopathy; and 3)... -
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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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- MELAS Syndrome Confirmed by Mitochondrial DNA Analysis in Siblings
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Rah YG, Chae SA, Lim IS, Lee DK, Yoo BH, Ko TS, Yoo HW
- KMID: 1946343
- J Korean Pediatr Soc.
- 1999 Mar;42(3):412-418.
MELAS(mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome is a major subgroup of mitochondrial myopathy. Recent advances in molecular genetics revealed specific mutations in mitochondrial DNA which cause MELAS.... -
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- Mitochondrial myopathies caused by prolonged use of telbivudine
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Lee JM, Shin JH, Park YE, Kim DS
- KMID: 2367993
- Ann Clin Neurophysiol.
- 2017 Jan;19(1):40-45.
- doi: 10.14253/acn.2017.19.1.40
BACKGROUND: Telbivudine is a nucleoside analogue used for the treatment of chronic hepatitis B, but it often develops mitochondrial toxicity leading to symptomatic myopathy. In this study, three patients with... -
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- Autosomal Dominant Type of Chronic Progressive External Ophthalmoplegia With Elevated Acetylcholine Receptor Binding Antibody
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Ko MS, Kim MS, Kwon JH, Kim WJ, Lee EM, Kim SY, Kim DS
- KMID: 1966528
- J Korean Neurol Assoc.
- 2012 Aug;30(3):214-217.
External ophthalmoplegia and ptosis are common manifestations of mitochondrial cytopathy, such as chronic progressive external ophthalmoplegia (CPEO). However, these symptoms and signs may also be presenting features of myasthenia gravis... -
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- Clinical and Laboratory Features of Children with Mitochondrial Respiratory Chain Enzyme Complexes Defect and Neurological Abnormalities: A case report
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Ahn SJ, Park ES, Lee YM, Kim SH, Kim DJ, Rha DW
- KMID: 2394071
- J Korean Acad Rehabil Med.
- 2009 Feb;33(1):118-122.
Mitochondrial cytopathies represent a heterogeneous group of multisystem disorder that preferentially affects the muscle and nervous systems. Mitochondrial respiratory chain enzyme complexes (MRC) defect can be the cause of many... -
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- Obstetric anesthesia considerations in Kearns-Sayre syndrome: a case report
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Faris AS, Tawfic QA, Jeyaraj L
- KMID: 1937690
- Korean J Anesthesiol.
- 2014 Oct;67(4):283-286.
- doi: 10.4097/kjae.2014.67.4.283
Kearns-Sayre syndrome (KSS) is a rare mitochondrial myopathy that usually develops before 20 years of age. It demonstrates multisystemic involvement with a triad of cardinal features: progressive ophthalmoplegia, pigmentary retinopathy,... -
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- General anesthesia without neuromuscular blockade for a child with mitochondrial myopathy
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Jeon Y, Kim H, Son B
- KMID: 1780205
- Korean J Anesthesiol.
- 2012 Aug;63(2):181-182.
- doi: 10.4097/kjae.2012.63.2.181
No abstract available. -
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- A Case of Rhabdomyolysis and Acute Renal Failure Associated with Mitochondrial Myopathy
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Kim JH, Roh YJ, Kim JY, Moon SY, Kim HW, Kim JG, Lee JH, Roh JH, Cheon BC, Lee KH, Chung SJ, Ryu JY
- KMID: 2079413
- Korean J Nephrol.
- 2004 May;23(3):509-513.
Mitochondrial myopathies are diseases caused by defects in metabolic pathway of mitochondria. Mitochondrial myopathy is known as one of the causes of recurrent myoglobinuria, while clinically, rarely causes acute renal... -
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- General Anesthesia with Sevoflurane for a Patient with MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like Episodes) Syndrome: A case report
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Yoon SZ, Chung SH, Kim HS, Oh AY, Kim SD, Kim CS
- KMID: 2299149
- Korean J Anesthesiol.
- 2005 Sep;49(3):429-432.
- doi: 10.4097/kjae.2005.49.3.429
We describe the anesthetic management of a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes (MELAS) syndrome, and a form of mitochondrial myopathy. A 14 year-old-male with MELAS syndrome... -
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- A Case of Mitochondrial Myopathy Showing Severe Hypoxemia during REM Sleep
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Kim JS, Kim SK, Lee SH, Ahn JH, Kim CH, Moon HS
- KMID: 2317448
- Sleep Med Psychophysiol.
- 2007 Jun;14(1):49-53.
Mitochondrial myopathy is characterized by variable clinical manifestations from mild limb weakness to fatal respiratory failure and central nervous system sequela. But it is a rare event that sleep disordered... -
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- Ultrastructural Characteristics of the Orbicularis Oris Muscle in the Microform Cleft Lip
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Kim SC, Lee TJ, Kang MH
- KMID: 2007434
- J Korean Cleft Palate-Craniofac Assoc.
- 2007 Oct;8(2):45-48.
RecentIy, increasing emphasis has been placed on the histochemical and ultrastructural characteristics of the muscle in the cleft lip. Schendelet al and Cho et al demonstrated a non-neurogenic muscle atrophy... -
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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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- Myopathy due to Chronic Clevudine Therapy: A Case Report
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Kim JY, Yoon YS, Park KD, Koo H
- KMID: 1472646
- Korean J Pathol.
- 2009 Dec;43(6):575-579.
- doi: 10.4132/KoreanJPathol.2009.43.6.575
A 40-year-old man with chronic hepatitis B complained of progressive weakness of the proximal muscles and edema of both legs. He had been receiving long-term clevudine (nucleoside analogue reverse transcriptase... -
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