메뉴 건너뛰기




Volumn 15, Issue 5, 2002, Pages 533-538

Metabolic and drug-induced muscle disorders

Author keywords

Aetiology of Chanarin Dorfman syndrome; Beta enolase deficiency; Experimental murine models of glycogen storage disorders; Metabolic myopathies

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ALPHA GLUCOSIDASE; CARNITINE PALMITOYLTRANSFERASE; CERIVASTATIN; ENOLASE; ESTERASE; GLYCOGEN; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; THIOL ESTER HYDROLASE; TRIACYLGLYCEROL LIPASE; UBIDECARENONE;

EID: 0036796237     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200210000-00003     Document Type: Review
Times cited : (2)

References (62)
  • 2
    • 0036133715 scopus 로고    scopus 로고
    • Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)
    • Fernandez-Hojas R, Huie ML, Navarro C, et al. Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). Neuromusc Disord 2002; 12:159-166.
    • (2002) Neuromusc Disord , vol.12 , pp. 159-166
    • Fernandez-Hojas, R.1    Huie, M.L.2    Navarro, C.3
  • 3
    • 0037082873 scopus 로고    scopus 로고
    • A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease
    • Hadjigeorgiou GM, Papdimitriou A, Musumeci O, et al. A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease. J Neurol Sci 2002; 194:83-86.
    • (2002) J Neurol Sci , vol.194 , pp. 83-86
    • Hadjigeorgiou, G.M.1    Papdimitriou, A.2    Musumeci, O.3
  • 4
    • 0035694524 scopus 로고    scopus 로고
    • A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease
    • Deschauer M, Opalka JR, Lindner A, Zierz S. A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease. Mol Genet Metab. 2001; 74:489-491.
    • (2001) Mol Genet Metab , vol.74 , pp. 489-491
    • Deschauer, M.1    Opalka, J.R.2    Lindner, A.3    Zierz, S.4
  • 5
    • 35549014088 scopus 로고    scopus 로고
    • Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation
    • Ausems MG, Wokke JH, Reuser AJ, van Diggelen OP. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology 2001; 57:1938.
    • (2001) Neurology , vol.57 , pp. 1938
    • Ausems, M.G.1    Wokke, J.H.2    Reuser, A.J.3    Van Diggelen, O.P.4
  • 6
    • 0034909902 scopus 로고    scopus 로고
    • Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis
    • Comi GP, Fortunato F, Lucchiari S, et al. Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Ann Neurol 2001; 50:202-207.
    • (2001) Ann Neurol , vol.50 , pp. 202-207
    • Comi, G.P.1    Fortunato, F.2    Lucchiari, S.3
  • 7
    • 6844254522 scopus 로고    scopus 로고
    • Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease
    • Bijvoet AG, Van de Kamp EH, Kroos MA, et al. Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum Mol Genet 1998; 7:53-62.
    • (1998) Hum Mol Genet , vol.7 , pp. 53-62
    • Bijvoet, A.G.1    Van de Kamp, E.H.2    Kroos, M.A.3
  • 8
    • 0032698194 scopus 로고    scopus 로고
    • Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II
    • Bijvoet AG, Van Hirtum H, Kroos MA, et al. Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet 1999; 8:2145-2153.
    • (1999) Hum Mol Genet , vol.8 , pp. 2145-2153
    • Bijvoet, A.G.1    Van Hirtum, H.2    Kroos, M.A.3
  • 9
    • 0032834144 scopus 로고    scopus 로고
    • Pathological features of glycogen storage disease type II highlighted in the knockout mouse model
    • Bijvoet AG, Van Hirtum H, Vermey M, et al. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol 1999; 189:416-424.
    • (1999) J Pathol , vol.189 , pp. 416-424
    • Bijvoet, A.G.1    Van Hirtum, H.2    Vermey, M.3
  • 10
    • 14444274334 scopus 로고    scopus 로고
    • Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II
    • Raben N, Nagaraju K, Lee E, et al. Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II. J Biol Chem 1999; 273:19086-19092.
    • (1999) J Biol Chem , vol.273 , pp. 19086-19092
    • Raben, N.1    Nagaraju, K.2    Lee, E.3
  • 11
    • 0346507496 scopus 로고    scopus 로고
    • Cardiac remodeling and contractile function in acid α-glucosidase knockout mice
    • Kamphoven JHJ, Stubenitsky R, Reuser AJJ, et al. Cardiac remodeling and contractile function in acid α-glucosidase knockout mice. Physiol Genom 2001; 5:171-179.
    • (2001) Physiol Genom , vol.5 , pp. 171-179
    • Kamphoven, J.H.J.1    Stubenitsky, R.2    Reuser, A.J.J.3
  • 12
    • 0034729963 scopus 로고    scopus 로고
    • Recombinant human alpha-glucosidase from rabbit milk in Pompe patients
    • Van den Hout H, Reuser AJ, Vulto AG, et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 2000; 356:397-398.
    • (2000) Lancet , vol.356 , pp. 397-398
    • Van den Hout, H.1    Reuser, A.J.2    Vulto, A.G.3
  • 13
    • 0035746540 scopus 로고    scopus 로고
    • Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
    • Amalfitano A, Bengur AR, Morse RP, et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med 2001; 3:132-138.
    • (2001) Genet Med , vol.3 , pp. 132-138
    • Amalfitano, A.1    Bengur, A.R.2    Morse, R.P.3
  • 14
    • 0034772350 scopus 로고    scopus 로고
    • Conditional tissue-specific expression of the acid α-glusidase (GAA) gene in the GAA knockout mice: Implications for therapy
    • Raben N, Lu N, Nagaraju K, et al. Conditional tissue-specific expression of the acid α-glusidase (GAA) gene in the GAA knockout mice: implications for therapy. Hum Mol Gen 2001; 10:2039-2047.
    • (2001) Hum Mol Gen , vol.10 , pp. 2039-2047
    • Raben, N.1    Lu, N.2    Nagaraju, K.3
  • 15
    • 0036226791 scopus 로고    scopus 로고
    • Efficacy of gene therapy for a prototypical lysosomal storage disease (GSD-II) is critically dependent on vector dose, transgene promoter, and the tissues targeted for vector transduction
    • Ding E, Hu H, Hodges BL, et al. Efficacy of gene therapy for a prototypical lysosomal storage disease (GSD-II) is critically dependent on vector dose, transgene promoter, and the tissues targeted for vector transduction. Mol Ther 2002; 5:436-446.
    • (2002) Mol Ther , vol.5 , pp. 436-446
    • Ding, E.1    Hu, H.2    Hodges, B.L.3
  • 16
    • 0035954365 scopus 로고    scopus 로고
    • Surprises of genetic engineering. A possible model of polyglucosan body disease
    • Raben N, Danon M, Lu N, et al. Surprises of genetic engineering. A possible model of polyglucosan body disease. Neurology 2001; 56:1739-1745.
    • (2001) Neurology , vol.56 , pp. 1739-1745
    • Raben, N.1    Danon, M.2    Lu, N.3
  • 17
    • 0036171573 scopus 로고    scopus 로고
    • Defects of mitochondrial β-oxidation: A growing group of disorders
    • Vockleya J, Whiteman D. Defects of mitochondrial β-oxidation: a growing group of disorders. Neuromusc Disord 2002; 12:235-246.
    • (2002) Neuromusc Disord , vol.12 , pp. 235-246
    • Vockleya, J.1    Whiteman, D.2
  • 18
    • 0035746511 scopus 로고    scopus 로고
    • Phenotype and genotype variation in primary carnitine deficiency
    • Wang Y, Korman SH, Ye J, et al. Phenotype and genotype variation in primary carnitine deficiency. Genet Med 2001; 3:387-392.
    • (2001) Genet Med , vol.3 , pp. 387-392
    • Wang, Y.1    Korman, S.H.2    Ye, J.3
  • 19
    • 0035132434 scopus 로고    scopus 로고
    • Molecular and physiological evidence for multifunctionality of carnitine/organic cation transporter OCTN2
    • Ohashi R, Tamai I, Nezu J-I, et al. Molecular and physiological evidence for multifunctionality of carnitine/organic cation transporter OCTN2. Mol Pharmacol 2001; 59:358-366.
    • (2001) Mol Pharmacol , vol.59 , pp. 358-366
    • Ohashi, R.1    Tamai, I.2    Nezu, J.-I.3
  • 20
    • 0034775125 scopus 로고    scopus 로고
    • Carnitine-deficient myopathy as a presentation of tyrosinemia type I
    • Nissenkorn A, Korman SH, Vardi O, et al. Carnitine-deficient myopathy as a presentation of tyrosinemia type I. J Child Neurol 2001; 16:642-644.
    • (2001) J Child Neurol , vol.16 , pp. 642-644
    • Nissenkorn, A.1    Korman, S.H.2    Vardi, O.3
  • 21
    • 0035099172 scopus 로고    scopus 로고
    • Carnitine-acylcarnitine translocase deficiency: Phenotype, residual enzyme activity and outcome
    • Lopriore E, Gemke RJ, Verhoeven NM, et al. Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome. Eur J Pediatr 2001; 160:101-104.
    • (2001) Eur J Pediatr , vol.160 , pp. 101-104
    • Lopriore, E.1    Gemke, R.J.2    Verhoeven, N.M.3
  • 22
    • 0034901261 scopus 로고    scopus 로고
    • Recurrent rhabdomyolysis and acute respiratory failure due to carnitine palmityltransferase deficiency
    • Smolle KH, Kaufmann P, Gasser R. Recurrent rhabdomyolysis and acute respiratory failure due to carnitine palmityltransferase deficiency. Intens Care Med 2001; 27:1235.
    • (2001) Intens Care Med , vol.27 , pp. 1235
    • Smolle, K.H.1    Kaufmann, P.2    Gasser, R.3
  • 23
    • 0034827427 scopus 로고    scopus 로고
    • Emotional distress induced rhabdomyolysis in an individual with carnitine palmitoyl-transferase deficiency
    • Wallace RA, Klestov AC, Kubler PA. Emotional distress induced rhabdomyolysis in an individual with carnitine palmitoyl-transferase deficiency. Clin Exp Rheumatol 2001; 19:583-586.
    • (2001) Clin Exp Rheumatol , vol.19 , pp. 583-586
    • Wallace, R.A.1    Klestov, A.C.2    Kubler, P.A.3
  • 24
    • 0034815422 scopus 로고    scopus 로고
    • Valproic acid triggers acute rhabdomyolysis in a patient with carnitine palmitoyltransferase type II deficiency
    • Kottlors M, Jaksch M, Ketelsen UP, et al. Valproic acid triggers acute rhabdomyolysis in a patient with carnitine palmitoyltransferase type II deficiency. Neuromusc Disord 2001; 11:757-759.
    • (2001) Neuromusc Disord , vol.11 , pp. 757-759
    • Kottlors, M.1    Jaksch, M.2    Ketelsen, U.P.3
  • 25
    • 0035725631 scopus 로고    scopus 로고
    • 'Adult' form of muscular carnitine palmitoyltransferase II deficiency: Manifestation in a 2-year-old child
    • Gempel K, von Praun C, Baumkotter J, et al. 'Adult' form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child. Eur J Pediatr 2001; 160:548-551.
    • (2001) Eur J Pediatr , vol.160 , pp. 548-551
    • Gempel, K.1    Von Praun, C.2    Baumkotter, J.3
  • 26
    • 0035425592 scopus 로고    scopus 로고
    • Antenatal presentation of carnitine palmitoyltransferase II deficiency
    • Elpeleg ON, Hammerman C, Saada A, et al. Antenatal presentation of carnitine palmitoyltransferase II deficiency. Am J Med Genet 2001; 102:183-187.
    • (2001) Am J Med Genet , vol.102 , pp. 183-187
    • Elpeleg, O.N.1    Hammerman, C.2    Saada, A.3
  • 27
    • 17744413018 scopus 로고    scopus 로고
    • Diagnosis of very long chain acyldehydrogenase deficiency from an infant's newborn screening card
    • Wood JC, Magera MJ, Rinaldo P, et al. Diagnosis of very long chain acyldehydrogenase deficiency from an infant's newborn screening card. Pediatrics 2001; 108:E19.
    • (2001) Pediatrics , vol.108
    • Wood, J.C.1    Magera, M.J.2    Rinaldo, P.3
  • 28
    • 0035141152 scopus 로고    scopus 로고
    • Myopathic form of very-long chain acyl-CoA dehydrogenase deficiency: Evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl
    • Fukao T, Watanabe H, Orii K, et al. Myopathic form of very-long chain acyl-CoA dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl. Pediatr Res 2001; 49:227-231.
    • (2001) Pediatr Res , vol.49 , pp. 227-231
    • Fukao, T.1    Watanabe, H.2    Orii, K.3
  • 29
    • 0035282837 scopus 로고    scopus 로고
    • Increased anaerobic glycolysis in mitochondrial trifunctional protein-deficient brain
    • Miyajima H, Ouchi Y, Sakamoto M, et al. Increased anaerobic glycolysis in mitochondrial trifunctional protein-deficient brain. J Neurol Sci 2001; 184:197-201.
    • (2001) J Neurol Sci , vol.184 , pp. 197-201
    • Miyajima, H.1    Ouchi, Y.2    Sakamoto, M.3
  • 30
    • 0034912124 scopus 로고    scopus 로고
    • Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects
    • Onkenhout W, Venizelos V, Scholte HR, et al. Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects. J Inherit Metab Dis 2001; 24:337-344.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 337-344
    • Onkenhout, W.1    Venizelos, V.2    Scholte, H.R.3
  • 31
    • 0034764272 scopus 로고    scopus 로고
    • Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
    • Lefevre C, Jobard F, Caux F, et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 2001; 69:1002-1012.
    • (2001) Am J Hum Genet , vol.69 , pp. 1002-1012
    • Lefevre, C.1    Jobard, F.2    Caux, F.3
  • 32
    • 0036228186 scopus 로고    scopus 로고
    • Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome
    • Schlame M, Towbin JA, Heerdt PM, et al. Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. Ann Neurol 2002; 51:634-637.
    • (2002) Ann Neurol , vol.51 , pp. 634-637
    • Schlame, M.1    Towbin, J.A.2    Heerdt, P.M.3
  • 34
    • 0034943837 scopus 로고    scopus 로고
    • A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome
    • Seneca S, Verhelst H, De Meirleir L, et al. A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. Arch Neurol 2001; 58:1113-1118.
    • (2001) Arch Neurol , vol.58 , pp. 1113-1118
    • Seneca, S.1    Verhelst, H.2    De Meirleir, L.3
  • 35
    • 0034990893 scopus 로고    scopus 로고
    • A mitochondrial encephalo-myoneuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA
    • Nagashima T, Kato H, Maguchi S, et al. A mitochondrial encephalo-myoneuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA. Neuromusc Disord 2001; 11:470-476.
    • (2001) Neuromusc Disord , vol.11 , pp. 470-476
    • Nagashima, T.1    Kato, H.2    Maguchi, S.3
  • 36
    • 0034991798 scopus 로고    scopus 로고
    • A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy
    • Campos Y, Gamez J, Garcia A, et al. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy. Neuromusc Disord 2001; 11:477-480.
    • (2001) Neuromusc Disord , vol.11 , pp. 477-480
    • Campos, Y.1    Gamez, J.2    Garcia, A.3
  • 37
    • 0034980534 scopus 로고    scopus 로고
    • A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia
    • Spagnolo M, Tomelleri G, Vattemi G, et al. A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia. Neuromusc Disord 2001; 11:481-484.
    • (2001) Neuromusc Disord , vol.11 , pp. 481-484
    • Spagnolo, M.1    Tomelleri, G.2    Vattemi, G.3
  • 38
    • 0037161274 scopus 로고    scopus 로고
    • Exercise-induced muscle 'burning', fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly)
    • Nishigaki Y, Bonilla E, Shanske S, et al. Exercise-induced muscle 'burning', fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly). Neurology 2002; 58:1282-1285.
    • (2002) Neurology , vol.58 , pp. 1282-1285
    • Nishigaki, Y.1    Bonilla, E.2    Shanske, S.3
  • 39
    • 0034955881 scopus 로고    scopus 로고
    • Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene
    • Taylor RW, Singh-Kler R, Hayes CM, et al. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Ann Neurol 2001; 50:104-107.
    • (2001) Ann Neurol , vol.50 , pp. 104-107
    • Taylor, R.W.1    Singh-Kler, R.2    Hayes, C.M.3
  • 40
  • 41
    • 0034841446 scopus 로고    scopus 로고
    • Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene
    • Campos Y, Garcia-Redondo A, Fernandez-Moreno MA, et al. Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene. Ann Neurol 2001; 50:409-413.
    • (2001) Ann Neurol , vol.50 , pp. 409-413
    • Campos, Y.1    Garcia-Redondo, A.2    Fernandez-Moreno, M.A.3
  • 42
    • 0036132671 scopus 로고    scopus 로고
    • A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III
    • Lamantea E, Carrara F, Mariotti C, et al. A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromusc Disord 2002; 12:49-52.
    • (2002) Neuromusc Disord , vol.12 , pp. 49-52
    • Lamantea, E.1    Carrara, F.2    Mariotti, C.3
  • 43
    • 0034797268 scopus 로고    scopus 로고
    • Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene
    • Wibrand F, Ravn K, Schwartz M, et al. Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene. Ann Neurol 2001; 50:540-543.
    • (2001) Ann Neurol , vol.50 , pp. 540-543
    • Wibrand, F.1    Ravn, K.2    Schwartz, M.3
  • 44
    • 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, et al. 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
  • 45
    • 0033613865 scopus 로고    scopus 로고
    • Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
    • Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999; 283:689-692.
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3
  • 46
    • 0033365348 scopus 로고    scopus 로고
    • A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia
    • Kaukonen J, Zeviani M, Comi GP, et al. A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet 1999; 65:256-261.
    • (1999) Am J Hum Genet , vol.65 , pp. 256-261
    • Kaukonen, J.1    Zeviani, M.2    Comi, G.P.3
  • 47
    • 0028833524 scopus 로고
    • An autosomal locus predisposing to deletions of mitochondrial DNA
    • Suomalainen A, Kaukonen J, Amati P, et al. An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 1995; 9:146-151.
    • (1995) Nat Genet , vol.9 , pp. 146-151
    • Suomalainen, A.1    Kaukonen, J.2    Amati, P.3
  • 48
    • 0034943967 scopus 로고    scopus 로고
    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    • Van Goethem G, Dermaut B, Lofgren A, et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2002; 28:211-212.
    • (2002) Nat Genet , vol.28 , pp. 211-212
    • Van Goethem, G.1    Dermaut, B.2    Lofgren, A.3
  • 49
    • 0034604506 scopus 로고    scopus 로고
    • Role of adenine nucleotide translocator 1 in mtDNA maintenance
    • Kaukonen J, Juselius JK, Tiranti V, et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000; 289:782-785.
    • (2000) Science , vol.289 , pp. 782-785
    • Kaukonen, J.1    Juselius, J.K.2    Tiranti, V.3
  • 50
    • 0035956491 scopus 로고    scopus 로고
    • A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family
    • Napoli L, Bordoni A, Zeviani M, et al. A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. Neurology 2001; 57:2295-2298.
    • (2001) Neurology , vol.57 , pp. 2295-2298
    • Napoli, L.1    Bordoni, A.2    Zeviani, M.3
  • 51
    • 0034938364 scopus 로고    scopus 로고
    • Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
    • Spelbrink JN, Li FY, Tiranti V, et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001; 28:223-231.
    • (2001) Nat Genet , vol.28 , pp. 223-231
    • Spelbrink, J.N.1    Li, F.Y.2    Tiranti, V.3
  • 52
    • 0035179561 scopus 로고    scopus 로고
    • Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
    • Saada A, Shaag A, Mandel H, et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Gen 2001; 29:342-344.
    • (2001) Nat Gen , vol.29 , pp. 342-344
    • Saada, A.1    Shaag, A.2    Mandel, H.3
  • 53
    • 0035183256 scopus 로고    scopus 로고
    • The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
    • Mandel H, Szargel R, Labay V. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001; 29:337-341.
    • (2001) Nat Genet , vol.29 , pp. 337-341
    • Mandel, H.1    Szargel, R.2    Labay, V.3
  • 54
    • 17944381521 scopus 로고    scopus 로고
    • A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
    • de Lonlay P, Valnot I, Barrientos A, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 2001; 29:57-60.
    • (2001) Nat Genet , vol.29 , pp. 57-60
    • De Lonlay, P.1    Valnot, I.2    Barrientos, A.3
  • 55
    • 0035859689 scopus 로고    scopus 로고
    • Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency
    • Di Giovanni S, Mirabella M, Spinazzola A, et al. Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. Neurology 2001; 57:515-518.
    • (2001) Neurology , vol.57 , pp. 515-518
    • Di Giovanni, S.1    Mirabella, M.2    Spinazzola, A.3
  • 56
    • 0037051164 scopus 로고    scopus 로고
    • Myopathy and rhabdomyolysis with lipid-lowering drugs
    • Hodel C. Myopathy and rhabdomyolysis with lipid-lowering drugs. Toxicol Lett 2002; 128:159-168.
    • (2002) Toxicol Lett , vol.128 , pp. 159-168
    • Hodel, C.1
  • 57
    • 0037075262 scopus 로고    scopus 로고
    • Cerivastatin and reports of fatal rhabdomyolysis
    • Staffa JA, Chang J, Green L. Cerivastatin and reports of fatal rhabdomyolysis. N Engl J Med 2002; 346:539-540.
    • (2002) N Engl J Med , vol.346 , pp. 539-540
    • Staffa, J.A.1    Chang, J.2    Green, L.3
  • 59
    • 0036172252 scopus 로고    scopus 로고
    • Risperidone and severe cerivastatin-induced rhabdomyolysis
    • Giner V, Munoz R, Redon J. Risperidone and severe cerivastatin-induced rhabdomyolysis. J Intern Med 2002; 251:177-178.
    • (2002) J Intern Med , vol.251 , pp. 177-178
    • Giner, V.1    Munoz, R.2    Redon, J.3
  • 62
    • 0026467795 scopus 로고
    • Experimental evaluation of the effects of pravastatin on electrophysiological parameters of rat skeletal muscle
    • Pierno S, De Luca A, Tricarico D, et al. Experimental evaluation of the effects of pravastatin on electrophysiological parameters of rat skeletal muscle. Pharmacol Toxicol 1992; 71:325-329.
    • (1992) Pharmacol Toxicol , vol.71 , pp. 325-329
    • Pierno, S.1    De Luca, A.2    Tricarico, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.