메뉴 건너뛰기




Volumn 51, Issue 4, 1998, Pages 1086-1092

Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

EID: 0031681413     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.51.4.1086     Document Type: Article
Times cited : (97)

References (37)
  • 1
    • 0002082551 scopus 로고
    • Mitochondrial encephalomyopathies
    • Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Kunkle LM, eds. Boston: Butterworth-Heinemann
    • DiMauro S. Mitochondrial encephalomyopathies. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Kunkle LM, eds. The molecular and genetic bases of neurological diseases. Boston: Butterworth-Heinemann, 1993:665-694.
    • (1993) The Molecular and Genetic Bases of Neurological Diseases , pp. 665-694
    • DiMauro, S.1
  • 2
    • 0023615870 scopus 로고
    • Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder
    • Berl
    • Bardosi A, Creutzfeldt W, DiMauro S, et al. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol (Berl) 1987;74: 248-258.
    • (1987) Acta Neuropathol , vol.74 , pp. 248-258
    • Bardosi, A.1    Creutzfeldt, W.2    DiMauro, S.3
  • 3
    • 0025128307 scopus 로고
    • Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction: POLIP syndrome
    • Simon L, Horupian D, Dorfman L, et al. Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction: POLIP syndrome. Ann Neurol 1990;28:349-360.
    • (1990) Ann Neurol , vol.28 , pp. 349-360
    • Simon, L.1    Horupian, D.2    Dorfman, L.3
  • 4
    • 0020567546 scopus 로고
    • Oculogastrointestinal muscular dystrophy
    • Ionasescu V. Oculogastrointestinal muscular dystrophy. Am J Med Genet 1983;15:103-112.
    • (1983) Am J Med Genet , vol.15 , pp. 103-112
    • Ionasescu, V.1
  • 5
    • 0000511618 scopus 로고
    • Progressive external ophthalmoplegia and ocular myopathies
    • Vinkens PJ, Bruyn GW, Klawans HL, eds. Amsterdam: Elsevier Science
    • Rowland LP. Progressive external ophthalmoplegia and ocular myopathies. In: Vinkens PJ, Bruyn GW, Klawans HL, eds. Handbook of clinical neurology, vol. 62. Amsterdam: Elsevier Science, 1992:287-329.
    • (1992) Handbook of Clinical Neurology , vol.62 , pp. 287-329
    • Rowland, L.P.1
  • 6
    • 0026602653 scopus 로고
    • Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia: A muscular biochemical study of a mitochondrial disorder
    • Li V, Hostein J, Romero N, et al. Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia: a muscular biochemical study of a mitochondrial disorder. Dig Dis Sci 1992;37:456-463.
    • (1992) Dig Dis Sci , vol.37 , pp. 456-463
    • Li, V.1    Hostein, J.2    Romero, N.3
  • 7
    • 0028301915 scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
    • Hirano M, Silvestri G, Blake DM, 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
  • 8
    • 0028306096 scopus 로고
    • Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy and gastrointestinal dysfunction with multiple deletion of mtDNA. A mitochondrial disorder in search of a name
    • Uncini A, Servidei S, Silvestri G, et al. Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy and gastrointestinal dysfunction with multiple deletion of mtDNA. A mitochondrial disorder in search of a name. Muscle Nerve 1994;17:667-674.
    • (1994) Muscle Nerve , vol.17 , pp. 667-674
    • Uncini, A.1    Servidei, S.2    Silvestri, G.3
  • 9
    • 0030668332 scopus 로고    scopus 로고
    • Le MNGIE syndrome: Deux cas dans une même fratrie
    • Debouverie M, Wagner M, Ducrocq X, et al. Le MNGIE syndrome: deux cas dans une même fratrie. Rev Neurol 1997;153: 547-553.
    • (1997) Rev Neurol , vol.153 , pp. 547-553
    • Debouverie, M.1    Wagner, M.2    Ducrocq, X.3
  • 10
    • 0031882208 scopus 로고    scopus 로고
    • Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogenesis
    • Carrozzo R, Hirano M, Fromenty B, et al. Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogenesis. Neurology 1998;50:99-106.
    • (1998) Neurology , vol.50 , pp. 99-106
    • Carrozzo, R.1    Hirano, M.2    Fromenty, B.3
  • 12
    • 0014059118 scopus 로고
    • An electron transfer system associated with the outer membrane of the mitochondria
    • Sottocasa GL, Kuylenstierna B, Ernster L, Bergstrand A. An electron transfer system associated with the outer membrane of the mitochondria. J Cell Biol 1969;32:415-438.
    • (1969) J Cell Biol , vol.32 , pp. 415-438
    • Sottocasa, G.L.1    Kuylenstierna, B.2    Ernster, L.3    Bergstrand, A.4
  • 13
    • 77956987911 scopus 로고
    • Preparation of succinate dehydrogenase and reconstitution of succinate oxidase
    • King TE, Howard RL. Preparation of succinate dehydrogenase and reconstitution of succinate oxidase. Methods Enzymol 1967;10:322-331.
    • (1967) Methods Enzymol , vol.10 , pp. 322-331
    • King, T.E.1    Howard, R.L.2
  • 14
    • 77957010982 scopus 로고
    • Citrate synthase
    • Srere PA. Citrate synthase. Methods Enzymol 1969;13:3-11.
    • (1969) Methods Enzymol , vol.13 , pp. 3-11
    • Srere, P.A.1
  • 16
    • 0022407678 scopus 로고
    • Rapid isolation of animal mitochondrial DNA by alkaline extraction
    • Pavla TK, Pavla ET. Rapid isolation of animal mitochondrial DNA by alkaline extraction. FEBS Lett 1985;192:267-270.
    • (1985) FEBS Lett , vol.192 , pp. 267-270
    • Pavla, T.K.1    Pavla, E.T.2
  • 17
    • 0023813744 scopus 로고
    • Deletions of mitochondrial DNA in Kearns-Sayre syndrome
    • Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988; 38:1339-1346.
    • (1988) Neurology , vol.38 , pp. 1339-1346
    • Zeviani, M.1    Moraes, C.T.2    DiMauro, S.3
  • 18
    • 0026015896 scopus 로고
    • Mitochondrial DNA depletion with variable tissue specificity: A novel genetic abnormality in mitochondrial diseases
    • Moraes CT, Shanske S, Tritschler H-J, et al. Mitochondrial DNA depletion with variable tissue specificity: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991;48:492-501.
    • (1991) Am J Hum Genet , vol.48 , pp. 492-501
    • Moraes, C.T.1    Shanske, S.2    Tritschler, H.-J.3
  • 20
    • 0028238418 scopus 로고
    • Platelet-mediated transformation of mt-DNA-less human cells: Analysis of phenotypic variability among clones from normal individuals and complementation behaviour of the tRNA lys mutation causing myoclonic epilepsy and ragged red fibers
    • Chomyn A, Lay S, Shakeley R, Bresolin N, Scarlato G, Attardi G. Platelet-mediated transformation of mt-DNA-less human cells: analysis of phenotypic variability among clones from normal individuals and complementation behaviour of the tRNA lys mutation causing myoclonic epilepsy and ragged red fibers. Am J Hum Genet 1994;54:966-974.
    • (1994) Am J Hum Genet , vol.54 , pp. 966-974
    • Chomyn, A.1    Lay, S.2    Shakeley, R.3    Bresolin, N.4    Scarlato, G.5    Attardi, G.6
  • 21
    • 0025250482 scopus 로고
    • Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: A new autosomal dominant disease
    • Zeviani M, Bresolin N, Gellera C, et al. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 1990; 47:904-914.
    • (1990) Am J Hum Genet , vol.47 , pp. 904-914
    • Zeviani, M.1    Bresolin, N.2    Gellera, C.3
  • 22
    • 0019423856 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-464.
    • (1981) Nature , vol.290 , pp. 457-464
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 24
    • 0028323212 scopus 로고
    • Mitochondrial myopathy: Correlation between oxidative defect and mitochondrial DNA deletions at single fiber level
    • Prelle A, Fagiolari G, Checcarelli N, et al. Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level. Acta Neuropathol 1994;87:371-376.
    • (1994) Acta Neuropathol , vol.87 , pp. 371-376
    • Prelle, A.1    Fagiolari, G.2    Checcarelli, N.3
  • 25
    • 0025772582 scopus 로고
    • Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: A new approach to the study of mitochondrial myopathies
    • Andreetta F, Tritschler H-J, Schon EA, DiMauro S, Bonilla E. Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: a new approach to the study of mitochondrial myopathies. J Neurol Sci 1991;105: 88-92.
    • (1991) J Neurol Sci , vol.105 , pp. 88-92
    • Andreetta, F.1    Tritschler, H.-J.2    Schon, E.A.3    DiMauro, S.4    Bonilla, E.5
  • 26
    • 0001015435 scopus 로고
    • MNGIE syndrome: Report of two new patients
    • Abstract
    • Blake D, Lombes A, Minetti C, et al. MNGIE syndrome: report of two new patients. Neurology 1990;40(suppl 1):294. Abstract.
    • (1990) Neurology , vol.40 , Issue.1 SUPPL. , pp. 294
    • Blake, D.1    Lombes, A.2    Minetti, C.3
  • 27
    • 0020666025 scopus 로고
    • A familial visceral myopathy with external ophthalmoplegia and autosomal recessive transmission
    • Anuras S, Mitros FA, Nowak TV, et al. A familial visceral myopathy with external ophthalmoplegia and autosomal recessive transmission. Gastroenterology 1983;84:346-353.
    • (1983) Gastroenterology , vol.84 , pp. 346-353
    • Anuras, S.1    Mitros, F.A.2    Nowak, T.V.3
  • 28
    • 0023927307 scopus 로고
    • Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy
    • Cervera R, Bruix J, Bayes A, et al. Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy. Gut 1988;29:544-547.
    • (1988) Gut , vol.29 , pp. 544-547
    • Cervera, R.1    Bruix, J.2    Bayes, A.3
  • 29
    • 0016884709 scopus 로고
    • Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria
    • Okamura K, Santa T, Nagae K, Omae T. Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria. J Neurol Sci 1976;27:79-91.
    • (1976) J Neurol Sci , vol.27 , pp. 79-91
    • Okamura, K.1    Santa, T.2    Nagae, K.3    Omae, T.4
  • 31
    • 0022461829 scopus 로고
    • Peripheral neuropathy associated with mitochondrial myopathy
    • Yiannikas C, McLeod J, Pollard J, Baverstock J. Peripheral neuropathy associated with mitochondrial myopathy. Ann Neurol 1986;20:249-257.
    • (1986) Ann Neurol , vol.20 , pp. 249-257
    • Yiannikas, C.1    McLeod, J.2    Pollard, J.3    Baverstock, J.4
  • 33
    • 0003128225 scopus 로고
    • Mitochondrial abnormalities in human sural nerves: Fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies and review of the literature
    • Schroder JM, Sommer C. Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies and review of the literature. Acta Neuropathol 1991; 36:307-328.
    • (1991) Acta Neuropathol , vol.36 , pp. 307-328
    • Schroder, J.M.1    Sommer, C.2
  • 34
    • 0030843425 scopus 로고    scopus 로고
    • A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy
    • Verma A, Piccoli DA, Bonilla E, Berry GT, DiMauro S, Moraes CT. A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy. Pediatr Res 1997;42:448-454.
    • (1997) Pediatr Res , vol.42 , pp. 448-454
    • Verma, A.1    Piccoli, D.A.2    Bonilla, E.3    Berry, G.T.4    DiMauro, S.5    Moraes, C.T.6
  • 35
    • 0026541124 scopus 로고
    • Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
    • Tritschler H-J, Andreetta F, Moraes CT, et al. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 1992;42:209-217.
    • (1992) Neurology , vol.42 , pp. 209-217
    • Tritschler, H.-J.1    Andreetta, F.2    Moraes, C.T.3
  • 36
    • 0008015237 scopus 로고
    • Late-onset muscle mitochondrial DNA (mtDNA) depletion: Diagnosis by single fiber PCR
    • Abstract
    • Sciacco M, Gasparo-Rippa S, Shanske S, et al. Late-onset muscle mitochondrial DNA (mtDNA) depletion: diagnosis by single fiber PCR. Neurology 1995;45(suppl 4):A434. Abstract.
    • (1995) Neurology , vol.45 , Issue.4 SUPPL.
    • Sciacco, M.1    Gasparo-Rippa, S.2    Shanske, S.3
  • 37
    • 85038551031 scopus 로고    scopus 로고
    • Genetic linkage studies in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome to chromosome 22q13.32-qter
    • Abstract
    • Hirano M, Yebenes J, DiMauro S, et al. Genetic linkage studies in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome to chromosome 22q13.32-qter. Neurology 1999;50(suppl 4):A166. Abstract.
    • (1999) Neurology , vol.50 , Issue.4 SUPPL.
    • Hirano, M.1    Yebenes, J.2    DiMauro, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.