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Volumn 9, Issue 6, 1997, Pages 496-503

Diagnosis of the mitochondrial encephalomyopathies

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0030731867     PISSN: 10408711     EISSN: None     Source Type: Journal    
DOI: 10.1097/00002281-199711000-00004     Document Type: Review
Times cited : (8)

References (36)
  • 2
    • 0006949363 scopus 로고    scopus 로고
    • Mitochondrial disorders
    • Edited by Moser HW. Amsterdam: Elsevier
    • De Vivo DC, Hirano M, DiMauro S: Mitochondrial disorders. In Handbook of Clinical Neurology, vol 22. Edited by Moser HW. Amsterdam: Elsevier; 1996:389-444. Review of mitochondrial metabolism and description of biochemical abnormalities, including defects of the carnitine cycle, fatty acid oxidation, and pyruvate metabolism.
    • (1996) Handbook of Clinical Neurology , vol.22 , pp. 389-444
    • De Vivo, D.C.1    Hirano, M.2    DiMauro, S.3
  • 3
    • 0027302901 scopus 로고
    • Identification of a common mutation in the carnitine palmitoyltrasferase II gene in familial recurrent myoglobinuria patients
    • Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, DiDonato S: Identification of a common mutation in the carnitine palmitoyltrasferase II gene in familial recurrent myoglobinuria patients. Nat Genet 1993, 4:314-319.
    • (1993) Nat Genet , vol.4 , pp. 314-319
    • Taroni, F.1    Verderio, E.2    Dworzak, F.3    Willems, P.J.4    Cavadini, P.5    DiDonato, S.6
  • 4
    • 0002629236 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathies
    • Edited by Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL Boston: Butterworth-Heinemann
    • DiMauro S, Bonilla E: Mitochondrial encephalomyopathies. In The Molecular and Genetic Basis of Neurological Disease, edn 2. Edited by Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL Boston: Butterworth-Heinemann; 1997:201-235. Review of the morphologic, biochemical, and molecular genetic features of the mitochondrial encephalomyopathies. Emphasis is on disorders of the respiratory chain and mtDNA abnormalities.
    • (1997) The Molecular and Genetic Basis of Neurological Disease, Edn 2 , pp. 201-235
    • DiMauro, S.1    Bonilla, E.2
  • 11
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt IJ, Harding AE, Morgan Hughes JA: Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988, 331:717-719.
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan Hughes, J.A.3
  • 14
    • 0030763848 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathies: Gene mutation
    • Servidei S: Mitochondrial encephalomyopathies: gene mutation. Neuromuscul Disord 1997, 7:XII-XVII. Up-to-date listing of reported defects of mtDNA, describing the specific mutations, gene locations, and mode of inheritance, with a key reference for each.
    • (1997) Neuromuscul Disord , vol.7
    • Servidei, S.1
  • 15
    • 0025666322 scopus 로고
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990, 348:651-653.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.-I.1    Nonaka, I.2    Horai, S.3
  • 16
    • 0021143782 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A distinctive clinical syndrome
    • Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann Neurol 1984, 16:481-488.
    • (1984) Ann Neurol , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    DiMauro, S.3    De Vivo, D.C.4    Rowland, L.P.5
  • 20
  • 23
    • 0027451284 scopus 로고
    • The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh syndrome
    • Santorelli FM, Shanske S, Macaya A, De Vivo DC, DiMauro S: The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh syndrome. Ann Neurol 1993, 34:827-834.
    • (1993) Ann Neurol , vol.34 , pp. 827-834
    • Santorelli, F.M.1    Shanske, S.2    Macaya, A.3    De Vivo, D.C.4    DiMauro, S.5
  • 24
    • 0029122341 scopus 로고
    • A novel mitochondrial ATPase 6 point mutation in familiar bilateral striatal necrosis
    • Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S: A novel mitochondrial ATPase 6 point mutation in familiar bilateral striatal necrosis. Ann Neurol 1995, 38:468-472.
    • (1995) Ann Neurol , vol.38 , pp. 468-472
    • Thyagarajan, D.1    Shanske, S.2    Vazquez-Memije, M.3    De Vivo, D.4    DiMauro, S.5
  • 27
    • 0025345775 scopus 로고
    • Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
    • Larsson N-G, Holme E, Kristiansson B, Oldfors A, Tulinius M: Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pedriatr Res 1990, 28:131-136.
    • (1990) Pedriatr Res , vol.28 , pp. 131-136
    • Larsson, N.-G.1    Holme, E.2    Kristiansson, B.3    Oldfors, A.4    Tulinius, M.5
  • 28
    • 0027381483 scopus 로고
    • Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus
    • Dunbar DR, Moonie PA, Swingler RJ, Davidson D, Roberts R, Holt IJ: Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus. Hum Mol Genet 1993, 2:1619-1624.
    • (1993) Hum Mol Genet , vol.2 , pp. 1619-1624
    • Dunbar, D.R.1    Moonie, P.A.2    Swingler, R.J.3    Davidson, D.4    Roberts, R.5    Holt, I.J.6
  • 29
    • 0024601360 scopus 로고
    • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
    • Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S: An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989, 339:309-311.
    • (1989) Nature , vol.339 , pp. 309-311
    • Zeviani, M.1    Servidei, S.2    Gellera, C.3    Bertini, E.4    DiMauro, S.5    DiDonato, S.6
  • 30
    • 0029996721 scopus 로고    scopus 로고
    • Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
    • Bohlega S, Tanji K, Santorelli FM, Hirano M, al-Jishi A, DiMauro S: Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996, 46:1329-1334.
    • (1996) Neurology , vol.46 , pp. 1329-1334
    • Bohlega, S.1    Tanji, K.2    Santorelli, F.M.3    Hirano, M.4    Al-Jishi, A.5    DiMauro, S.6
  • 31
    • 0028301915 scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
    • Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, Hays AP, Lovelace RE, Butler I, Bertorini TE, et al.: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994, 44:721-727.
    • (1994) Neurology , vol.44 , pp. 721-727
    • Hirano, M.1    Silvestri, G.2    Blake, D.M.3    Lombes, A.4    Minetti, C.5    Bonilla, E.6    Hays, A.P.7    Lovelace, R.E.8    Butler, I.9    Bertorini, T.E.10
  • 32
    • 8944243541 scopus 로고    scopus 로고
    • Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients
    • Santorelli FM, Sciacco M, Tanji K, Shanske S, Vu TH, Golzi V, Griggs RC, Mendell JR, Hays AP, Bertorini TE, et al.: Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients. Ann Neurol 1996, 39:789-795. This study confirmed the pre-sence of multiple deletions in mtDNA in some patients with sporadic inclusion body myositis. Although neither the origin nor the pathogenic significance of these multiple deletions is known, it is interesting that they were detected in a high percentage (73%) of patients as compared with appropriate controls.
    • (1996) Ann Neurol , vol.39 , pp. 789-795
    • Santorelli, F.M.1    Sciacco, M.2    Tanji, K.3    Shanske, S.4    Vu, T.H.5    Golzi, V.6    Griggs, R.C.7    Mendell, J.R.8    Hays, A.P.9    Bertorini, T.E.10
  • 34
    • 0001337535 scopus 로고
    • Treatment of mitochondrial diseases
    • Edited by DiMauro S, Wallace DC. New York: Raven Press
    • Calvani M, Koverech A, Caruso G: Treatment of mitochondrial diseases. In Mitochondrial DNA in Human Pathology. Edited by DiMauro S, Wallace DC. New York: Raven Press; 1993:173-198.
    • (1993) Mitochondrial DNA in Human Pathology , pp. 173-198
    • Calvani, M.1    Koverech, A.2    Caruso, G.3
  • 35
    • 0029743399 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathies: What next?
    • DiMauro S: Mitochondrial encephalomyopathies: what next? J Inherit Metab Dis 1996, 19:489-503. Brief summary pointing out areas in the field where there are still many unsolved problems and where future research will be directed, including nDNA mutations, the pathophysiology of mtDNA-related disorders, therapy, and genetic counseling.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 489-503
    • DiMauro, S.1
  • 36
    • 0029072626 scopus 로고
    • Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders
    • De Stefano N, Matthews PM, Ford B, Genge A, Karpati G, Arnold DL: Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. Neurology 1995, 45:1193-1198.
    • (1995) Neurology , vol.45 , pp. 1193-1198
    • De Stefano, N.1    Matthews, P.M.2    Ford, B.3    Genge, A.4    Karpati, G.5    Arnold, D.L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.