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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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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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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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Genetics of Mitochondrial Myopathies

Shin JH, Kim DS

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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Autosomal Dominant Type of Chronic Progressive External Ophthalmoplegia With Elevated Acetylcholine Receptor Binding Antibody

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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SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia

Park KP, Kim HS, Kim ES, Park YE, Lee CH, Kim DS

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

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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Molecular Diagnosis for Mitochondrial DNA Aberrations in Chronic Progressive External Ophthalmoplegia

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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Large Scale Single Deletion of Mitochondrial DNA in Chronic Progressive External Ophthalmoplegia

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?

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 Insulin Dependent Diabetes Mellitus with MELAS Syndrome Associated with a Mutation of Mitochondrial DNA

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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A Case of Kearns-Sayre Syudrome

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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MRI follow-up study and 1H-MR spectroscopic finding in a patient with Kearns-Sayre syndrome

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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Optic Neuropathy Associated with Mitochondrial tRNA(Leu(UUR)) A->G(3243) Mutation

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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Clinical Manifestations of Mitochondrial Diseases

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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A Case of Chronic Progressive External Ophthalmoplegia

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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Clinical Phenotypic Patterns of Ophthalmoplegia Plus with Ragged Red Fiber

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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A Case of Oculopharyngeal Muscular Dystrophy

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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A Case of the Oculopharyngeal Muscular Dystrophy

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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