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Volumn 108, Issue 5, 2011, Pages 459-462

Kearns-Sayre syndrome: A mitochondrial disease (OMIM #530000);Kearns-Sayre-Syndrom: Eine mitochondriale Erkrankung (OMIM #530000)

Author keywords

Chronic progressive external ophthalmoplegia; Kearns Sayre syndrome; Mitochondrial disease; Muscle biopsy; Ptosis

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; EYE MOVEMENT DISORDER; HUMAN; KEARNS SAYRE SYNDROME; MALE; PTOSIS;

EID: 79956075131     PISSN: 0941293X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00347-010-2296-3     Document Type: Article
Times cited : (3)

References (18)
  • 1
    • 0032995311 scopus 로고    scopus 로고
    • Improved brain and muscle mitochondrial respiration with CoQ. An in vivo study by 31P-MR spectroscopy in patients with mitochondrial cytopathies
    • Barbiroli B, Iotti S, Lodi R (1999) Improved brain and muscle mitochondrial respiration with CoQ. An in vivo study by 31P-MR spectroscopy in patients with mitochondrial cytopathies. Biofactors 9: 253-260.
    • (1999) Biofactors , vol.9 , pp. 253-260
    • Barbiroli, B.1    Iotti, S.2    Lodi, R.3
  • 2
    • 0037321655 scopus 로고    scopus 로고
    • Neuro-ophthalmology of mitochondrial diseases
    • Biousse V, Newman NJ (2003) Neuro-ophthalmology of mitochondrial diseases. Curr Opin Neurol 16: 35-43.
    • (2003) Curr Opin Neurol , vol.16 , pp. 35-43
    • Biousse, V.1    Newman, N.J.2
  • 3
    • 0014300876 scopus 로고
    • Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia
    • Drachman DA (1968) Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia. Arch Neurol 18: 654-674.
    • (1968) Arch Neurol , vol.18 , pp. 654-674
    • Drachman, D.A.1
  • 4
    • 0031697364 scopus 로고    scopus 로고
    • Genotyping in urine: an interesting tool for epidemiological studies
    • Haufroid V, Clippe A, Knoops B et al (1998) Genotyping in urine: an interesting tool for epidemiological studies. Clin Chem 44: 2210-2211.
    • (1998) Clin Chem , vol.44 , pp. 2210-2211
    • Haufroid, V.1    Clippe, A.2    Knoops, B.3
  • 6
    • 84924635809 scopus 로고
    • Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Unusual syndrome with histologic study in one of two cases
    • Kearns T, Sayre G (1958) Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Unusual syndrome with histologic study in one of two cases. Arch Ophthalmol 60: 280-289.
    • (1958) Arch Ophthalmol , vol.60 , pp. 280-289
    • Kearns, T.1    Sayre, G.2
  • 7
    • 29744457780 scopus 로고    scopus 로고
    • Tissue-specific mtDNA lesions and radical-associated mitochondrial dysfunction in human hearts exposed to doxorubicin
    • Lebrecht D, Kokkori A, Ketelsen UP et al (2005) Tissue-specific mtDNA lesions and radical-associated mitochondrial dysfunction in human hearts exposed to doxorubicin. J Pathol 207: 436-444.
    • (2005) J Pathol , vol.207 , pp. 436-444
    • Lebrecht, D.1    Kokkori, A.2    Ketelsen, U.P.3
  • 8
    • 0023877476 scopus 로고
    • Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
    • Lestienne P, Ponsot G (1988) Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. Lancet 1: 885.
    • (1988) Lancet , vol.1 , pp. 885
    • Lestienne, P.1    Ponsot, G.2
  • 9
    • 40649104716 scopus 로고    scopus 로고
    • Detection of mitochondrial DNA deletions in the cochlea and its structural elements from archival human temporal bone tissue
    • Markaryan A, Nelson EG, Hinojosa R (2008) Detection of mitochondrial DNA deletions in the cochlea and its structural elements from archival human temporal bone tissue. Mutat Res 640: 38-45.
    • (2008) Mutat Res , vol.640 , pp. 38-45
    • Markaryan, A.1    Nelson, E.G.2    Hinojosa, R.3
  • 10
    • 0026717291 scopus 로고
    • Remission of Leber's hereditary optic neuropathy with idebenone
    • Mashima Y, Hiida Y, Oguchi Y (1992) Remission of Leber's hereditary optic neuropathy with idebenone. Lancet 340: 368-369.
    • (1992) Lancet , vol.340 , pp. 368-369
    • Mashima, Y.1    Hiida, Y.2    Oguchi, Y.3
  • 11
    • 33847176234 scopus 로고    scopus 로고
    • Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation
    • Mayr JA, Merkel O, Kohlwein SD et al (2007) Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet 80: 478-484.
    • (2007) Am J Hum Genet , vol.80 , pp. 478-484
    • Mayr, J.A.1    Merkel, O.2    Kohlwein, S.D.3
  • 12
    • 0032507986 scopus 로고    scopus 로고
    • A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up
    • Mohri I, Taniike M, Fujimura H et al (1998) A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up. J Neurol Sci 158: 106-109.
    • (1998) J Neurol Sci , vol.158 , pp. 106-109
    • Mohri, I.1    Taniike, M.2    Fujimura, H.3
  • 13
    • 4644307102 scopus 로고    scopus 로고
    • Kearns-Sayre syndrome -3 case reports and review of clinical feature
    • Park SB, Ma KT, Kook KH et al (2004) Kearns-Sayre syndrome -3 case reports and review of clinical feature. Yonsei Med J 45: 727-735.
    • (2004) Yonsei Med J , vol.45 , pp. 727-735
    • Park, S.B.1    Ma, K.T.2    Kook, K.H.3
  • 14
    • 0004925580 scopus 로고
    • Diverse cinical disorders associated with morphological abnormalities of mitochondria
    • In: Scarlato G, Cerri C (Hrsg), Piccin Medical Books, Padova, S
    • Rowland L, Hays A, Di Mauro S et al (1983) Diverse cinical disorders associated with morphological abnormalities of mitochondria. In: Scarlato G, Cerri C (Hrsg) Mitochondrial pathology in muscle diseases. Piccin Medical Books, Padova, S 141-158.
    • (1983) Mitochondrial pathology in muscle diseases , pp. 141-158
    • Rowland, L.1    Hays, A.2    Di Mauro, S.3
  • 15
    • 21444446341 scopus 로고    scopus 로고
    • Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis
    • Schaefer AM, Blakely EL, Griffiths PG et al (2005) Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis. Muscle Nerve 32: 104-107.
    • (2005) Muscle Nerve , vol.32 , pp. 104-107
    • Schaefer, A.M.1    Blakely, E.L.2    Griffiths, P.G.3
  • 16
    • 77955417913 scopus 로고    scopus 로고
    • Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features
    • Serrano M, Garcia-Silva MT, Martin-Hernandez E et al (2010) Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. Mitochondrion.
    • (2010) Mitochondrion
    • Serrano, M.1    Garcia-Silva, M.T.2    Martin-Hernandez, E.3
  • 18
    • 46449088130 scopus 로고    scopus 로고
    • Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome: interdisciplinary diagnosis and therapy; Chronisch-progressive externe Ophthalmoplegie und Kearns-Sayre-Syndrom: Interdisziplinäre Diagnostik und Therapie
    • Wabbels B, Ali N, Kunz WS et al (2008) Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome: interdisciplinary diagnosis and therapy; Chronisch-progressive externe Ophthalmoplegie und Kearns-Sayre-Syndrom: Interdisziplinäre Diagnostik und Therapie. Ophthalmologe 105: 550-556.
    • (2008) Ophthalmologe , vol.105 , pp. 550-556
    • Wabbels, B.1    Ali, N.2    Kunz, W.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.