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Volumn 114, Issue 4, 2004, Pages 925-931

Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients with Mitochondrial Disease

Author keywords

Mitochondrial cardiomyopathies; Mitochondrial encephalomyopathies; Modified walker criteria; Morbidity; Survival rate

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; MULTIENZYME COMPLEX;

EID: 14244259670     PISSN: 00314005     EISSN: 00314005     Source Type: Journal    
DOI: 10.1542/peds.2004-0718     Document Type: Review
Times cited : (419)

References (50)
  • 1
    • 78651126508 scopus 로고
    • A case of severe hypermetabolism of non-thyroid origin with a defect in the maintenance of mitochondrial respiratory control. A correlated clinical, biochemical and morphological study
    • Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B. A case of severe hypermetabolism of non-thyroid origin with a defect in the maintenance of mitochondrial respiratory control. A correlated clinical, biochemical and morphological study. J Clin Invest. 1962;41:1776-1804
    • (1962) J Clin Invest , vol.41 , pp. 1776-1804
    • Luft, R.1    Ikkos, D.2    Palmieri, G.3    Ernster, L.4    Afzelius, B.5
  • 2
    • 0033631258 scopus 로고    scopus 로고
    • Incidence of inborn errors of metabolism in British Columbia, 1969 -1996
    • Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969 -1996. Pediatrics. 2000;105(1). Available at: www.pediatrics.org/cgi/content/full/105/1/e10
    • (2000) Pediatrics , vol.105 , Issue.1
    • Applegarth, D.A.1    Toone, J.R.2    Lowry, R.B.3
  • 3
    • 0035092240 scopus 로고    scopus 로고
    • The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical and DNA abnormalities
    • Darin N, Oldfors A, Moslemi AR, Holme E, Tulinius M. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical and DNA abnormalities. Ann Neurol. 2001;49:377-383
    • (2001) Ann Neurol , vol.49 , pp. 377-383
    • Darin, N.1    Oldfors, A.2    Moslemi, A.R.3    Holme, E.4    Tulinius, M.5
  • 4
    • 0042266280 scopus 로고    scopus 로고
    • Minimum birth prevalence of mitochondrial respiratory chain disorders in children
    • Skladal D, Halliday J, Thornburn DR. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain. 2003;126:1905-1912
    • (2003) Brain , vol.126 , pp. 1905-1912
    • Skladal, D.1    Halliday, J.2    Thornburn, D.R.3
  • 5
    • 0030782409 scopus 로고    scopus 로고
    • Mitochondrial medicine
    • Chinnery PF, Turnbull DM. Mitochondrial medicine. QJM. 1997;90:657-667
    • (1997) QJM , vol.90 , pp. 657-667
    • Chinnery, P.F.1    Turnbull, D.M.2
  • 6
    • 0035024320 scopus 로고    scopus 로고
    • Diagnosis of mitochondrial disorders: Clinical and biochemical approach
    • Thornburn DR, Smeitink J. Diagnosis of mitochondrial disorders: clinical and biochemical approach. J Inherit Metab Dis. 2001;24:312-316
    • (2001) J Inherit Metab Dis , vol.24 , pp. 312-316
    • Thornburn, D.R.1    Smeitink, J.2
  • 7
    • 0033646445 scopus 로고    scopus 로고
    • Practical problems in detecting abnormal mitochondrial function and genomes
    • Thornburn DR. Practical problems in detecting abnormal mitochondrial function and genomes. Hum Reprod. 2000;15:57-67
    • (2000) Hum Reprod , vol.15 , pp. 57-67
    • Thornburn, D.R.1
  • 9
    • 77956999492 scopus 로고
    • Preparation and properties of NADH dehydrogenase from cardiac muscle
    • Estabrook R, Pullman M, eds. New York, NY: Academic Press
    • King TE, Howard RL. Preparation and properties of NADH dehydrogenase from cardiac muscle. In: Estabrook R, Pullman M, eds. Methods in Enzymology: Oxidation and Phosphorylation. New York, NY: Academic Press; 1967:275-294
    • (1967) Methods in Enzymology: Oxidation and Phosphorylation , pp. 275-294
    • King, T.E.1    Howard, R.L.2
  • 10
    • 77956987911 scopus 로고
    • Preparation of succinate dehydrogenase and reconstitution of succinate oxidase
    • Estabrook R, Pullman M, eds. New York, NY: Academic Press
    • King TE. Preparation of succinate dehydrogenase and reconstitution of succinate oxidase. In: Estabrook R, Pullman M, eds. Methods in Enzymology: Oxidation and Phosphorylation. New York, NY: Academic Press; 1967:322-331
    • (1967) Methods in Enzymology: Oxidation and Phosphorylation , pp. 322-331
    • King, T.E.1
  • 11
    • 77957006730 scopus 로고
    • Cytochrome oxidase: Beef heart
    • Estabrook R, Pullman M, eds. New York, NY: Academic Press
    • Yonetan T. Cytochrome oxidase: beef heart. In: Estabrook R, Pullman M, eds. Methods in Enzymology: Oxidation and Phosphorylation. New York, NY: Academic Press; 1967:332-335
    • (1967) Methods in Enzymology: Oxidation and Phosphorylation , pp. 332-335
    • Yonetan, T.1
  • 13
    • 0032486118 scopus 로고    scopus 로고
    • Yield of mtDNA mutation analysis in 2000 patients
    • Liang MH, Wong L-JC. Yield of mtDNA mutation analysis in 2000 patients. Am J Med Genet. 1998;77:385-400
    • (1998) Am J Med Genet , vol.77 , pp. 385-400
    • Liang, M.H.1    Wong, L.-J.C.2
  • 14
    • 0030850573 scopus 로고    scopus 로고
    • Direct detection of multiple point mutations in mitochondrial DNA
    • Wong L-JC, Senadheera D. Direct detection of multiple point mutations in mitochondrial DNA. Clin Chem. 1997;43:1857-1861
    • (1997) Clin Chem , vol.43 , pp. 1857-1861
    • Wong, L.-J.C.1    Senadheera, D.2
  • 15
    • 0141923809 scopus 로고    scopus 로고
    • The clinical spectrum of mitochondrial disease in 75 pediatric patients
    • Skladal D, Sudmeier C, Konstantopoulou V, et al. The clinical spectrum of mitochondrial disease in 75 pediatric patients. Clin Pediatr. 2003;42:703-710
    • (2003) Clin Pediatr , vol.42 , pp. 703-710
    • Skladal, D.1    Sudmeier, C.2    Konstantopoulou, V.3
  • 16
    • 10744222409 scopus 로고    scopus 로고
    • MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation
    • Szigeti K, Wong LJ-C, Perng CL, et al. MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. J Med Genet. 2004;41:125-129
    • (2004) J Med Genet , vol.41 , pp. 125-129
    • Szigeti, K.1    Wong, L.J.-C.2    Perng, C.L.3
  • 17
    • 1542753508 scopus 로고    scopus 로고
    • Compensatory amplification of mitochondrial DNA in a patient with a novel deletion/duplication and high mutant load
    • Wong L-JC, Perng CL, Hsu CH, et al. Compensatory amplification of mitochondrial DNA in a patient with a novel deletion/duplication and high mutant load. J Med Genet. 2003;40:e15
    • (2003) J Med Genet , vol.40
    • Wong, L.-J.C.1    Perng, C.L.2    Hsu, C.H.3
  • 18
    • 0032231707 scopus 로고    scopus 로고
    • A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency
    • von Kleist-Retzow JC, Cormier-Daire V, de Lonlay P, et al. A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. Am J Hum Genet. 1998;63:428-435
    • (1998) Am J Hum Genet , vol.63 , pp. 428-435
    • Von Kleist-Retzow, J.C.1    Cormier-Daire, V.2    De Lonlay, P.3
  • 21
    • 0141610413 scopus 로고
    • Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
    • Ogasahara S, Engel AG, Frens D, Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A. 1989;86:2379-2382
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 2379-2382
    • Ogasahara, S.1    Engel, A.G.2    Frens, D.3    Mack, D.4
  • 23
    • 0036839776 scopus 로고    scopus 로고
    • Comprehensive scanning of the whole mitochondrial genome for mutations
    • Wong L-JC, Liang M-H, Kwon H, Park J, Bai R, Tan D. Comprehensive scanning of the whole mitochondrial genome for mutations. Clin Chem. 2002;48:1901-1912
    • (2002) Clin Chem , vol.48 , pp. 1901-1912
    • Wong, L.-J.C.1    Liang, M.-H.2    Kwon, H.3    Park, J.4    Bai, R.5    Tan, D.6
  • 25
    • 0029778849 scopus 로고    scopus 로고
    • Clinical presentation of mitochondrial disorders in childhood
    • Munnich A, Rötig A, Chretien D, et al. Clinical presentation of mitochondrial disorders in childhood. J Inherit Metab Dis. 1996;19:521-527
    • (1996) J Inherit Metab Dis , vol.19 , pp. 521-527
    • Munnich, A.1    Rötig, A.2    Chretien, D.3
  • 27
    • 2342471811 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathies: Diagnostic approach
    • DiMauro S, Tay S, Mancuso M. Mitochondrial encephalomyopathies: diagnostic approach. Ann N Y Acad Sci. 2004;1011:217-231
    • (2004) Ann N Y Acad Sci , vol.1011 , pp. 217-231
    • DiMauro, S.1    Tay, S.2    Mancuso, M.3
  • 29
    • 0035096954 scopus 로고    scopus 로고
    • Mitochondrial myopathies and the role of the pathologist in the molecular era
    • Vogel H. Mitochondrial myopathies and the role of the pathologist in the molecular era. J Neuropathol Exp Neurol. 2001;60:217-227
    • (2001) J Neuropathol Exp Neurol , vol.60 , pp. 217-227
    • Vogel, H.1
  • 30
    • 0029875973 scopus 로고    scopus 로고
    • Cytochemistry and immunocytochemistry of mitochondria in tissue sections
    • Sciacco M, Bonilla E. Cytochemistry and immunocytochemistry of mitochondria in tissue sections. Methods Enzymol. 1996;264:509-521
    • (1996) Methods Enzymol , vol.264 , pp. 509-521
    • Sciacco, M.1    Bonilla, E.2
  • 31
    • 0030577222 scopus 로고    scopus 로고
    • Maternal inheritance and the evaluation of oxidative phosphorylation diseases
    • Shoffner JM. Maternal inheritance and the evaluation of oxidative phosphorylation diseases. Lancet. 1996;348:1283-1288
    • (1996) Lancet , vol.348 , pp. 1283-1288
    • Shoffner, J.M.1
  • 32
    • 0033358590 scopus 로고    scopus 로고
    • Human mitochondrial complex I in health and disease
    • Smeitink J, van den Heuvel L. Human mitochondrial complex I in health and disease. Am J Hum Genet. 1999;64:1505-1510
    • (1999) Am J Hum Genet , vol.64 , pp. 1505-1510
    • Smeitink, J.1    Van Den Heuvel, L.2
  • 33
    • 0028918471 scopus 로고
    • Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects
    • Anan R, Nakagawa M, Miyata M, et al. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation. 1995;91:955-961
    • (1995) Circulation , vol.91 , pp. 955-961
    • Anan, R.1    Nakagawa, M.2    Miyata, M.3
  • 35
    • 0037319721 scopus 로고    scopus 로고
    • Cardiomyopathy in children with mitochondrial disease. Clinical course and cardiological findings
    • Holmgren D, Wåhlander H, Eriksson BO, Oldfors A, Holme E, Tulinius M. Cardiomyopathy in children with mitochondrial disease. Clinical course and cardiological findings. Eur Heart J. 2003;24:280-288
    • (2003) Eur Heart J , vol.24 , pp. 280-288
    • Holmgren, D.1    Wåhlander, H.2    Eriksson, B.O.3    Oldfors, A.4    Holme, E.5    Tulinius, M.6
  • 36
    • 0024050176 scopus 로고    scopus 로고
    • Progression of hypertrophic into a dilated left ventricle in Friedreich's ataxia
    • Casazza F, Morpurgo M. Progression of hypertrophic into a dilated left ventricle in Friedreich's ataxia. G Ital Cardiol. 1998;18:615-618
    • (1998) G Ital Cardiol , vol.18 , pp. 615-618
    • Casazza, F.1    Morpurgo, M.2
  • 37
    • 0032994590 scopus 로고    scopus 로고
    • Rapid progression of cardiomyopathy in mitochondrial diabetes
    • Momiyama Y, Atsumi Y, Ohsuzu F, et al. Rapid progression of cardiomyopathy in mitochondrial diabetes. Jpn Circ J. 1999;63:130-132
    • (1999) Jpn Circ J , vol.63 , pp. 130-132
    • Momiyama, Y.1    Atsumi, Y.2    Ohsuzu, F.3
  • 38
    • 0344844423 scopus 로고    scopus 로고
    • Clinical characterization of left ventricular noncompaction in children. a relatively common form of cardiomyopathy
    • Pignatelli RH, McMahon CJ, Dreyer WJ, et al. Clinical characterization of left ventricular noncompaction in children. A relatively common form of cardiomyopathy. Circulation. 2003;108:2672-2678
    • (2003) Circulation , vol.108 , pp. 2672-2678
    • Pignatelli, R.H.1    McMahon, C.J.2    Dreyer, W.J.3
  • 39
    • 0030774767 scopus 로고    scopus 로고
    • Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome
    • Bleyl SB, Mumford BR, Thompson V, et al. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet. 1997;61:868-872
    • (1997) Am J Hum Genet , vol.61 , pp. 868-872
    • Bleyl, S.B.1    Mumford, B.R.2    Thompson, V.3
  • 40
    • 0025951140 scopus 로고
    • X-linked cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
    • Kelley RI, Cheatham JP, Clark BJ, et al. X-linked cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr. 1991;119:738-747
    • (1991) J Pediatr , vol.119 , pp. 738-747
    • Kelley, R.I.1    Cheatham, J.P.2    Clark, B.J.3
  • 42
    • 0026583782 scopus 로고
    • The neuropsychological features of mitochondrial myopathies and encephalomyopathies
    • Kartsounis LD, Troung DD, Morgan-Hughes JA, Harding AE. The neuropsychological features of mitochondrial myopathies and encephalomyopathies. Arch Neurol. 1992;49:158-160
    • (1992) Arch Neurol , vol.49 , pp. 158-160
    • Kartsounis, L.D.1    Troung, D.D.2    Morgan-Hughes, J.A.3    Harding, A.E.4
  • 43
    • 0033957295 scopus 로고    scopus 로고
    • Neurologic presentations of mitochondrial disorders
    • Nissenkorn A, Zeharia A, Lev D, et al. Neurologic presentations of mitochondrial disorders. J Child Neurol. 2000;15:44-48
    • (2000) J Child Neurol , vol.15 , pp. 44-48
    • Nissenkorn, A.1    Zeharia, A.2    Lev, D.3
  • 44
    • 0032692609 scopus 로고    scopus 로고
    • Focal cognitive impairment in mitochondrial encephalomyopathies: A neuropsychological and neuroimaging study
    • Turconi AC, Benti R, Castelli E, et al. Focal cognitive impairment in mitochondrial encephalomyopathies: a neuropsychological and neuroimaging study. J Neurol Sci. 1999;170:57-63
    • (1999) J Neurol Sci , vol.170 , pp. 57-63
    • Turconi, A.C.1    Benti, R.2    Castelli, E.3
  • 45
    • 0034058869 scopus 로고    scopus 로고
    • Childhood encephalopathies and myopathies: A prospective study in a defined population to assess the frequency of mitochondrial disorders
    • Uusima J, Remes AM, Rantala H, et al. Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders. Pediatrics. 2000;105:598-603
    • (2000) Pediatrics , vol.105 , pp. 598-603
    • Uusima, J.1    Remes, A.M.2    Rantala, H.3
  • 46
    • 0028342847 scopus 로고
    • A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
    • Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci U S A. 1994;91:6206-6210
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 6206-6210
    • Jun, A.S.1    Brown, M.D.2    Wallace, D.C.3
  • 47
    • 0026450789 scopus 로고
    • Electron transfer complex I defect in idiopathic dystonia
    • Benecke R, Strumper P, Weiss H. Electron transfer complex I defect in idiopathic dystonia. Ann Neurol. 1992;32:683-686
    • (1992) Ann Neurol , vol.32 , pp. 683-686
    • Benecke, R.1    Strumper, P.2    Weiss, H.3
  • 48
    • 0028318758 scopus 로고
    • Non-mendelian mitochondrial inheritance as a cause of progressive genetic sensorineural hearing loss
    • Gold M, Rapin I. Non-mendelian mitochondrial inheritance as a cause of progressive genetic sensorineural hearing loss. Int J Pediatr Otorhinolaryngol. 1994;30:91-104
    • (1994) Int J Pediatr Otorhinolaryngol , vol.30 , pp. 91-104
    • Gold, M.1    Rapin, I.2


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