- A Case of Chronic Progressive External Ophthalmoplegia
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Shin WK, Choi BS, Shin H
- KMID: 2107823
- J Korean Ophthalmol Soc.
- 1995 Jan;36(1):120-124.
Chronic progressive external ophthalmoplegia(CPEO) is rare syndrome, which is characterized by slowly progressive blepharoptosis, paralysis of extraocular muscle and has involvement of other organs, particularly the retina, heart, endocrine gland,... -
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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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- A Case of Oculopharyngeal Muscular Dystrophy
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Kim MH, Chung SK, Park C
- KMID: 1949601
- J Korean Ophthalmol Soc.
- 1991 Dec;32(12):1153-1158.
Oculopharyngeal muscular dystrophy, one of the variants of chronic progressive external ophthalmoplegia, is a disorder characterized by progressive bilateral ptosis, immobility of the eyes and dysphagia. We have experienced a... -
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- Clinical Phenotypic Patterns of Ophthalmoplegia Plus with Ragged Red Fiber
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Lee KW, Kim SY, Kim JY, Lee NS, Kim SH, Lee SB, Myung HJ, Chi JG
- KMID: 2016121
- J Korean Neurol Assoc.
- 1992 Jun;10(2):224-231.
Chronic progressive ophthalmoplegia(CPEO) is a vague clinical entity, which needs further understanding and there is still intense controversy about the classification on the Syndrome of Progressive External Ophthalmoplegia. In our... -
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- Large Scale Single Deletion of Mitochondrial DNA in Chronic Progressive External Ophthalmoplegia
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Koh KN, Park SY, Hwang H, Chae JH, Choi JE, Kim KJ, Hwang YS
- KMID: 1582211
- J Korean Child Neurol Soc.
- 2004 May;12(1):43-49.
PURPOSE: Chronic progressive external ophtahlmoplegia(CPEO) is a common phenotype of mitochondrial myopathy. CPEO has wide clinical spectrum with variable severity and can be divided into 3 groups; Kearns-Sayre syndrome, ophthalmoplegia... -
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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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- 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 the Oculopharyngeal Muscular Dystrophy
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Lee JB, Kim KC, Bum SG
- KMID: 2336426
- J Korean Ophthalmol Soc.
- 1987 Apr;28(2):489-494.
The oculopharyngeal muscular dystrophy is a distinct, clinically well-defined myopathy of later life inherited in an autosomal dominant fashion with complete penetrance. Blepharoptosis, dysphagia, lower leg weakness are the most... -
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- Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension
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Weitgasser L, Wechselberger G, Ensat F, Kaplan R, Hladik M
- KMID: 2120984
- Arch Plast Surg.
- 2015 Mar;42(2):214-217.
- doi: 10.5999/aps.2015.42.2.214
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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- 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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- Molecular Diagnosis for Mitochondrial DNA Aberrations in Chronic Progressive External Ophthalmoplegia
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Seong MW, Hwang JM, Kim JY, Ko HS, Park SS
- KMID: 2207655
- J Korean Ophthalmol Soc.
- 2005 Feb;46(2):323-329.
PURPOSE: To evaluate the spectrum of mitochondrial DNA (mtDNA) aberrations in patients with suspected chronic progressive external ophthalmoplegia (CPEO) and to establish the molecular diagnostic method for CPEO in Koreans.... -
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- Kearns-sayre Syndrome Treated with Permanent Pacemaker Insertion for Complete Atrioventricular Block
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Park EH, Her SH, Ha MA, Kim HS, Jang JH
- KMID: 2384843
- Kosin Med J.
- 2017 Jun;32(1):133-138.
- doi: 10.7180/kmj.2017.32.1.133
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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- Optic Neuropathy Associated with Mitochondrial tRNA(Leu(UUR)) A->G(3243) Mutation
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Kim SJ, Hwang JM, Park HW, Park SH, Lee HB
- KMID: 2123489
- J Korean Ophthalmol Soc.
- 1996 Jul;37(7):1241-1246.
Mitochondrial tRNA(Leu(UUR)) A->G(3243) mutation accounts for 80% of all patients with MELAS(mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes), diabetes mellitus with deafness and progressive external ophthalmoplegia. Optic neuropathy has rarely... -
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- Ophthalmoplegia in Mitochondrial Disease
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Lee SJ, Na JH, Han J, Lee YM
- KMID: 2426333
- Yonsei Med J.
- 2018 Dec;59(10):1190-1196.
- doi: 10.3349/ymj.2018.59.10.1190
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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- MRI follow-up study and 1H-MR spectroscopic finding in a patient with Kearns-Sayre syndrome
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Choi C, Sunwoo IN, Kim TS, Jeon P
- KMID: 2342676
- J Korean Neurol Assoc.
- 1998 Jun;16(3):388-391.
Serial Brain MRI was performed on a seventeen-year-old girl with Kearns-Sayre syndrome. At the age of 11, she complained bilateral ptosis. Two years later, bilateral blepharoplasty was done and brain... -
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- SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia
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Park KP, Kim HS, Kim ES, Park YE, Lee CH, Kim DS
- KMID: 1452569
- J Clin Neurol.
- 2011 Mar;7(1):25-30.
- doi: 10.3988/jcn.2011.7.1.25
BACKGROUND AND PURPOSE: Progressive external ophthalmoplegia (PEO) with Mendelian inheritance is a heterogeneous group of diseases associated with multiple deletions of mitochondrial DNA (mtDNA), which results from the disturbed replication... -
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- A Case of the Hypercalcemia Induced by the Coenzyme Q10 and Alphacalcidol Treatment in a Patient with Kearns-Sayre Syndrome and Hypoparathyroidism
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Jung HH, Hwang HH, Kim DH
- KMID: 1520747
- J Korean Soc Pediatr Endocrinol.
- 2007 Dec;12(2):155-158.
Kearns-Sayre Syndrome (KSS) is rare mitochondrial disorder characterized by chronic progressive external ophthalmoplegia, atypical retinal pigmentation and complete heart block. It is occasionally combined endocrinologic symptoms such as hypoparathyroidism, short... -
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- A Case of Insulin Dependent Diabetes Mellitus with MELAS Syndrome Associated with a Mutation of Mitochondrial DNA
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Choi MH, Rhim HM, Oh KW, Kang MI, Cha BY, Lee KW, Son HY, Kang SK, Lee HC, Huh KB
- KMID: 2331726
- J Korean Diabetes Assoc.
- 1999 Apr;23(2):207-214.
Mitochondrial mutations are associated with a wide range of disorders (Kearns-Sayre and chronic progressive external ophthalmoplegia syndromes, Myoclonic epilepsy and ragged-red fibre disease, Mitoehondrial encephalomyopathy, lactic acidosis, and stroke-like episodes,... -
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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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