메뉴 건너뛰기




Volumn 11, Issue 2, 2009, Pages 118-126

Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy

Author keywords

Cardiomyopathy; DHPLC; Diagnostics; LHON; Mitochondrial; mtDNA; NADH; Sequencing

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

EID: 62149127790     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318190356b     Document Type: Article
Times cited : (6)

References (32)
  • 1
    • 34247120812 scopus 로고    scopus 로고
    • Use of denaturing high-performance liquid chromatography to detect mutations in pediatric cardiomyopathies
    • Sehnert AJ. Use of denaturing high-performance liquid chromatography to detect mutations in pediatric cardiomyopathies. Methods Mol Med 2006;126:257-270.
    • (2006) Methods Mol Med , vol.126 , pp. 257-270
    • Sehnert, A.J.1
  • 2
    • 0345636017 scopus 로고    scopus 로고
    • The incidence of pediatric cardiomyopathy in two regions of the United States
    • Lipshultz SE, Sleeper LA, Towbin JA, et al. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med 2003;348:1647-1655.
    • (2003) N Engl J Med , vol.348 , pp. 1647-1655
    • Lipshultz, S.E.1    Sleeper, L.A.2    Towbin, J.A.3
  • 3
    • 0037464530 scopus 로고    scopus 로고
    • The epidemiology of childhood cardiomyopathy in Australia
    • Nugent AW, Daubeney PE, Chondros P, et al. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 2003;348:1639-1646.
    • (2003) N Engl J Med , vol.348 , pp. 1639-1646
    • Nugent, A.W.1    Daubeney, P.E.2    Chondros, P.3
  • 4
    • 0037155048 scopus 로고    scopus 로고
    • Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy
    • Blair E, Redwood C, de Jesus Oliveira M, et al. Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res 2002;90:263-269.
    • (2002) Circ Res , vol.90 , pp. 263-269
    • Blair, E.1    Redwood, C.2    de Jesus Oliveira, M.3
  • 5
    • 0037134832 scopus 로고    scopus 로고
    • Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: A comprehensive outpatient perspective
    • Ackerman MJ, VanDriest SL, Ommen SR, et al. Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. J Am Coll Cardiol 2002;39:2042-2048.
    • (2002) J Am Coll Cardiol , vol.39 , pp. 2042-2048
    • Ackerman, M.J.1    VanDriest, S.L.2    Ommen, S.R.3
  • 6
    • 0037058868 scopus 로고    scopus 로고
    • Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy
    • Van Driest SL, Ackerman MJ, Ommen SR, et al. Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy. Circulation 2002;106:3085-3090.
    • (2002) Circulation , vol.106 , pp. 3085-3090
    • Van Driest, S.L.1    Ackerman, M.J.2    Ommen, S.R.3
  • 7
    • 4043081356 scopus 로고    scopus 로고
    • Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy
    • Van Driest SL, Jaeger MA, Ommen SR, et al. Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2004;44:602-610.
    • (2004) J Am Coll Cardiol , vol.44 , pp. 602-610
    • Van Driest, S.L.1    Jaeger, M.A.2    Ommen, S.R.3
  • 8
    • 0041663609 scopus 로고    scopus 로고
    • Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy
    • Van Driest SL, Ellsworth EG, Ommen SR, et al. Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. Circulation 2003;108:445-451.
    • (2003) Circulation , vol.108 , pp. 445-451
    • Van Driest, S.L.1    Ellsworth, E.G.2    Ommen, S.R.3
  • 9
    • 0042779713 scopus 로고    scopus 로고
    • Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy
    • Mogensen J, Bahl A, Kubo T, Elanko N, Taylor R, McKenna WJ. Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy. J Med Genet 2003;40:e59.
    • (2003) J Med Genet , vol.40
    • Mogensen, J.1    Bahl, A.2    Kubo, T.3    Elanko, N.4    Taylor, R.5    McKenna, W.J.6
  • 10
    • 33745444609 scopus 로고    scopus 로고
    • Single-gene mutations and increased left ventricular wall thickness in the community: The Framingham Heart Study
    • Monta H, Larson MG, Barr SC, et al. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation 2006;113:2697-2705.
    • (2006) Circulation , vol.113 , pp. 2697-2705
    • Monta, H.1    Larson, M.G.2    Barr, S.C.3
  • 11
    • 0141569397 scopus 로고    scopus 로고
    • Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: Implications for kinase function and disease pathogenesis
    • Oliveira SM, Ehtisham J, Redwood CS, Ostman-Smith I, Blair EM, Watkins H. Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis. J Mol Cell Cardiol 2003;35:1251-1255.
    • (2003) J Mol Cell Cardiol , vol.35 , pp. 1251-1255
    • Oliveira, S.M.1    Ehtisham, J.2    Redwood, C.S.3    Ostman-Smith, I.4    Blair, E.M.5    Watkins, H.6
  • 13
    • 6044272949 scopus 로고    scopus 로고
    • Clinical presentations of mitochondrial cardiomyopathies
    • Lev D, Nissenkorn A, Leshinsky-Silver E, et al. Clinical presentations of mitochondrial cardiomyopathies. Pediatr Cardiol 2004;25:443-450.
    • (2004) Pediatr Cardiol , vol.25 , pp. 443-450
    • Lev, D.1    Nissenkorn, A.2    Leshinsky-Silver, E.3
  • 14
    • 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
  • 15
    • 14244259670 scopus 로고    scopus 로고
    • Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
    • Scaglia F, Towbin JA, Craigen WJ, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004;114:925-931.
    • (2004) Pediatrics , vol.114 , pp. 925-931
    • Scaglia, F.1    Towbin, J.A.2    Craigen, W.J.3
  • 19
    • 0034667187 scopus 로고    scopus 로고
    • Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography
    • van Den Bosch BJ, de Coo RF, Scholte HR, et al. Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography. Nucleic Acids Res 2000;28:E89.
    • (2000) Nucleic Acids Res , vol.28
    • van Den Bosch, B.J.1    de Coo, R.F.2    Scholte, H.R.3
  • 20
    • 0242402290 scopus 로고    scopus 로고
    • Qualitative and quantitative detection of mitochondrial heteroplasmy in cerebrospinal fluid using denaturing high-performance liquid chromatography
    • Conley YP, Brockway H, Beatty M, Kerr ME. Qualitative and quantitative detection of mitochondrial heteroplasmy in cerebrospinal fluid using denaturing high-performance liquid chromatography. Brain Res Brain Res Protoc 2003;12:99-103.
    • (2003) Brain Res Brain Res Protoc , vol.12 , pp. 99-103
    • Conley, Y.P.1    Brockway, H.2    Beatty, M.3    Kerr, M.E.4
  • 21
    • 20044386509 scopus 로고    scopus 로고
    • Mitochondrial mutation detection using enhanced multiplex denaturing high-performance liquid chromatography
    • Bayat A, Walter J, Lamb H, Marino M, Ferguson MW, Oilier WE. Mitochondrial mutation detection using enhanced multiplex denaturing high-performance liquid chromatography. Int J Immunogenet 2005;32:199-205.
    • (2005) Int J Immunogenet , vol.32 , pp. 199-205
    • Bayat, A.1    Walter, J.2    Lamb, H.3    Marino, M.4    Ferguson, M.W.5    Oilier, W.E.6
  • 22
    • 0036280575 scopus 로고    scopus 로고
    • Rapid screening mitochondrial DNA mutation by using denaturing high-performance liquid chromatography
    • Liu MR, Pan KF, Li ZF, et al. Rapid screening mitochondrial DNA mutation by using denaturing high-performance liquid chromatography. World J Gastroenterol 2002;8:426-430.
    • (2002) World J Gastroenterol , vol.8 , pp. 426-430
    • Liu, M.R.1    Pan, K.F.2    Li, Z.F.3
  • 23
    • 11444267614 scopus 로고    scopus 로고
    • Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography
    • Biggin A, Henke R, Bennetts B, et al. Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography. Mol Genet Metab 2005;84:61-74.
    • (2005) Mol Genet Metab , vol.84 , pp. 61-74
    • Biggin, A.1    Henke, R.2    Bennetts, B.3
  • 24
    • 31544443273 scopus 로고    scopus 로고
    • Optimized PCR fragments for heteroduplex analysis of the whole human mitochondrial genome with denaturing HPLC
    • Wulfert M, Tapprich C, Gattermann N. Optimized PCR fragments for heteroduplex analysis of the whole human mitochondrial genome with denaturing HPLC. J Chromatogr B Analyt Technol Biomed Life Sci 2006; 831:236-247.
    • (2006) J Chromatogr B Analyt Technol Biomed Life Sci , vol.831 , pp. 236-247
    • Wulfert, M.1    Tapprich, C.2    Gattermann, N.3
  • 25
    • 34249878518 scopus 로고    scopus 로고
    • Quantitative mitochondrial DNA mutation analysis by denaturing HPLC
    • Lim KS, Naviaux RK, Haas RH. Quantitative mitochondrial DNA mutation analysis by denaturing HPLC. Clin Chem 2007;53:1046-1052.
    • (2007) Clin Chem , vol.53 , pp. 1046-1052
    • Lim, K.S.1    Naviaux, R.K.2    Haas, R.H.3
  • 26
    • 38749105859 scopus 로고    scopus 로고
    • Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation
    • Lim KS, Naviaux RK, Wong S, Haas RH. Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation. J Mol Diagn 2008;10:102-108.
    • (2008) J Mol Diagn , vol.10 , pp. 102-108
    • Lim, K.S.1    Naviaux, R.K.2    Wong, S.3    Haas, R.H.4
  • 28
    • 0030454025 scopus 로고    scopus 로고
    • High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy
    • Mashima Y, Kigasawa K, Hasegawa H, Tani M, Oguchi Y. High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy. Clin Genet 1996;50:535-537.
    • (1996) Clin Genet , vol.50 , pp. 535-537
    • Mashima, Y.1    Kigasawa, K.2    Hasegawa, H.3    Tani, M.4    Oguchi, Y.5
  • 29
    • 0036877917 scopus 로고    scopus 로고
    • Ladies with Leber's hereditary optic neuropathy: An atypical disease
    • Dandekar SS, Graham EM, Plant GT. Ladies with Leber's hereditary optic neuropathy: an atypical disease. Eur J Ophthalmol 2002;12:537-541.
    • (2002) Eur J Ophthalmol , vol.12 , pp. 537-541
    • Dandekar, S.S.1    Graham, E.M.2    Plant, G.T.3
  • 30
    • 0041778318 scopus 로고    scopus 로고
    • Mitochondrial deafness
    • Fischel-Ghodsian N. Mitochondrial deafness. Ear Hear 2003;24:303-313.
    • (2003) Ear Hear , vol.24 , pp. 303-313
    • Fischel-Ghodsian, N.1
  • 31
    • 0242522947 scopus 로고    scopus 로고
    • Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations
    • Moraes CT, Atencio DP, Oca-Cossio J, Diaz F. Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations. J Mol Diagn 2003;5:197-208.
    • (2003) J Mol Diagn , vol.5 , pp. 197-208
    • Moraes, C.T.1    Atencio, D.P.2    Oca-Cossio, J.3    Diaz, F.4
  • 32
    • 0034700807 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain disorders. I. Mitochondrial DNA defects
    • Leonard JV, Schapira AH. Mitochondrial respiratory chain disorders. I. Mitochondrial DNA defects. Lancet 2000;355:299-304.
    • (2000) Lancet , vol.355 , pp. 299-304
    • Leonard, J.V.1    Schapira, A.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.