메뉴 건너뛰기




Volumn 61, Issue 4, 2008, Pages 460-466

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MEMBRANE PROTEIN; PROTEIN SURF1; UNCLASSIFIED DRUG;

EID: 42049103875     PISSN: 00219746     EISSN: None     Source Type: Journal    
DOI: 10.1136/jcp.2007.051060     Document Type: Article
Times cited : (28)

References (53)
  • 1
    • 0000376151 scopus 로고
    • Subacute necrotizing encephalomyelopathy in an infant
    • Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiat 1951;14:216-21.
    • (1951) J Neurol Neurosurg Psychiat , vol.14 , pp. 216-221
    • Leigh, D.1
  • 2
    • 0034032751 scopus 로고    scopus 로고
    • Disorders related to mitochondrial membranes: Pathology of the respiratory chain and neurodegeneration
    • Di Donato S. Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegeneration. J Inherit Metab Dis 2000;23:247-63.
    • (2000) J Inherit Metab Dis , vol.23 , pp. 247-263
    • Di Donato, S.1
  • 3
    • 0032470811 scopus 로고    scopus 로고
    • Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
    • Tiranti V, Hoertnagel K, Carrozo R, et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 1998;63:1609-21.
    • (1998) Am J Hum Genet , vol.63 , pp. 1609-1621
    • Tiranti, V.1    Hoertnagel, K.2    Carrozo, R.3
  • 4
    • 17344362021 scopus 로고    scopus 로고
    • SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
    • Zhu Z, Yao J, Johns T, et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 1998;20:337-43.
    • (1998) Nat Genet , vol.20 , pp. 337-343
    • Zhu, Z.1    Yao, J.2    Johns, T.3
  • 5
    • 0032816291 scopus 로고    scopus 로고
    • Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency
    • Tirani V, Jaksch M, Hofmann S, et al. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 1999;46:161-6.
    • (1999) Ann Neurol , vol.46 , pp. 161-166
    • Tirani, V.1    Jaksch, M.2    Hofmann, S.3
  • 6
    • 0033585059 scopus 로고    scopus 로고
    • SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency
    • Coenen MJH, van den Heuvel LP, Nijtmans LGJ, et al. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. Bioch Biophys Res Commun 1999;265:339-44.
    • (1999) Bioch Biophys Res Commun , vol.265 , pp. 339-344
    • Coenen, M.J.H.1    van den Heuvel, L.P.2    Nijtmans, L.G.J.3
  • 7
    • 0033372003 scopus 로고    scopus 로고
    • Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
    • Teraoka M, Yokoyama Y, Ninomiya S, et al. Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. Hum Genet 1999;105:560-3.
    • (1999) Hum Genet , vol.105 , pp. 560-563
    • Teraoka, M.1    Yokoyama, Y.2    Ninomiya, S.3
  • 8
    • 0034062224 scopus 로고    scopus 로고
    • Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients
    • Poyau A, Bucht K, Bouzidi MF, et al. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. Hum Genet 2000;106:194-205.
    • (2000) Hum Genet , vol.106 , pp. 194-205
    • Poyau, A.1    Bucht, K.2    Bouzidi, M.F.3
  • 9
    • 0034015368 scopus 로고    scopus 로고
    • Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2
    • Sue CM, Karadimas C, Checcarelli N, et al. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann Neurol 2000;47:589-95.
    • (2000) Ann Neurol , vol.47 , pp. 589-595
    • Sue, C.M.1    Karadimas, C.2    Checcarelli, N.3
  • 10
    • 17444437997 scopus 로고    scopus 로고
    • A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency
    • Santoro L, Carrozzo R, Malandrini A, et al. A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency. Neuromuscular Dis 2000;10:450-3.
    • (2000) Neuromuscular Dis , vol.10 , pp. 450-453
    • Santoro, L.1    Carrozzo, R.2    Malandrini, A.3
  • 11
    • 0035039888 scopus 로고    scopus 로고
    • Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency
    • Pequignot MO, Dey R, Zeviani M, et al. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency. Hum Mut 2001;17:375-81.
    • (2001) Hum Mut , vol.17 , pp. 375-381
    • Pequignot, M.O.1    Dey, R.2    Zeviani, M.3
  • 12
    • 0242679544 scopus 로고    scopus 로고
    • New splicing-site mutations in the SURF1 gene in Leigh syndrome
    • Pequignot MO, Desguerre I, Dey R, et al. New splicing-site mutations in the SURF1 gene in Leigh syndrome. J Biol Chem 2001;276:15326-9.
    • (2001) J Biol Chem , vol.276 , pp. 15326-15329
    • Pequignot, M.O.1    Desguerre, I.2    Dey, R.3
  • 13
    • 0007527895 scopus 로고    scopus 로고
    • SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome
    • Piekutowska-Abramczuk D, Popowska E, Pronicka E, et al. SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome. J Appl Genet 2001;42:103-8.
    • (2001) J Appl Genet , vol.42 , pp. 103-108
    • Piekutowska-Abramczuk, D.1    Popowska, E.2    Pronicka, E.3
  • 14
    • 0034987672 scopus 로고    scopus 로고
    • A SURF1 gene mutation presenting as isolated leukodystrophy
    • Rahman S, Brown RM, Chong WK, et al. A SURF1 gene mutation presenting as isolated leukodystrophy. Ann Neurol 2001;49:797-800.
    • (2001) Ann Neurol , vol.49 , pp. 797-800
    • Rahman, S.1    Brown, R.M.2    Chong, W.K.3
  • 15
    • 0034840854 scopus 로고    scopus 로고
    • A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis
    • Williams SL, Taanman J-W, Hansikova H, et al. A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis. Mol Genet Metab 2001;73:340-3.
    • (2001) Mol Genet Metab , vol.73 , pp. 340-343
    • Williams, S.L.1    Taanman, J.-W.2    Hansikova, H.3
  • 16
    • 0035101828 scopus 로고    scopus 로고
    • Mutations in SURF1 are not specifically associated with Leigh syndrome
    • Von Kleist-Retzow J-Ch, Yao J, Taanman J-W, et al. Mutations in SURF1 are not specifically associated with Leigh syndrome. J Med Genet 2001;38:109-13.
    • (2001) J Med Genet , vol.38 , pp. 109-113
    • Von Kleist-Retzow, J.-C.1    Yao, J.2    Taanman, J.-W.3
  • 17
    • 18244419764 scopus 로고    scopus 로고
    • A new missense mutation of574C>T in the SURF1 gene - biochemical and molecular genetic study in seven children with Leigh syndrome
    • in Czech
    • Capkova M, Hansikova H, Godinot C, et al. A new missense mutation of574C>T in the SURF1 gene - biochemical and molecular genetic study in seven children with Leigh syndrome (in Czech). Cas Lek Cesk 2002;141:636-41.
    • (2002) Cas Lek Cesk , vol.141 , pp. 636-641
    • Capkova, M.1    Hansikova, H.2    Godinot, C.3
  • 18
    • 0036018880 scopus 로고    scopus 로고
    • A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency
    • Bruno C, Biancheri R, Garavaglia B, et al. A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. J Child Neurol 2002;17:233-6.
    • (2002) J Child Neurol , vol.17 , pp. 233-236
    • Bruno, C.1    Biancheri, R.2    Garavaglia, B.3
  • 19
    • 0036216869 scopus 로고    scopus 로고
    • Three novel SURF-1 mutations in Japanese patients with Leigh syndrome
    • Ogawa Y, Naito E, Ito M, et al. Three novel SURF-1 mutations in Japanese patients with Leigh syndrome. Pediatr Neurol 2002;26:196-200.
    • (2002) Pediatr Neurol , vol.26 , pp. 196-200
    • Ogawa, Y.1    Naito, E.2    Ito, M.3
  • 20
    • 0037315780 scopus 로고    scopus 로고
    • Mutation screening in patients with isolated cytochrome c oxidase deficiency
    • Sacconi S, Salviati L, Sue CM, et al. Mutation screening in patients with isolated cytochrome c oxidase deficiency. Ped Res 2003;53:224-30.
    • (2003) Ped Res , vol.53 , pp. 224-230
    • Sacconi, S.1    Salviati, L.2    Sue, C.M.3
  • 21
    • 0038275810 scopus 로고    scopus 로고
    • Leigh syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings
    • Rossi A, Biancheri R, Bruno C, et al. Leigh syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. Am J Neuroradiol 2003;24:1188-91.
    • (2003) Am J Neuroradiol , vol.24 , pp. 1188-1191
    • Rossi, A.1    Biancheri, R.2    Bruno, C.3
  • 22
    • 0141959153 scopus 로고    scopus 로고
    • SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency
    • Moslemi A-R, Tulinius M, Darin N, et al. SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency. Neurology 2003;61:991-3.
    • (2003) Neurology , vol.61 , pp. 991-993
    • Moslemi, A.-R.1    Tulinius, M.2    Darin, N.3
  • 23
    • 1842433759 scopus 로고    scopus 로고
    • Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome
    • Head RA, Brown RB, Brown GK. Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome. J Inherit Metab Dis 2004;27:57-65.
    • (2004) J Inherit Metab Dis , vol.27 , pp. 57-65
    • Head, R.A.1    Brown, R.B.2    Brown, G.K.3
  • 24
    • 4444311185 scopus 로고    scopus 로고
    • Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh syndrome
    • Salviati L, Freehauf C, Sacconi S, et al. Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh syndrome. Am J Med Genet 2004;128A:195-8.
    • (2004) Am J Med Genet , vol.128 A , pp. 195-198
    • Salviati, L.1    Freehauf, C.2    Sacconi, S.3
  • 25
    • 30944433386 scopus 로고    scopus 로고
    • Unusual clinical presentations in four cases of Leigh disease, cytochrome oxidase deficiency, and SURF1 gene mutations
    • Tay SK, Sacconi S, Akman HO, et al. Unusual clinical presentations in four cases of Leigh disease, cytochrome oxidase deficiency, and SURF1 gene mutations. J Child Neurol 2005;20:670-4.
    • (2005) J Child Neurol , vol.20 , pp. 670-674
    • Tay, S.K.1    Sacconi, S.2    Akman, H.O.3
  • 26
    • 18844439121 scopus 로고    scopus 로고
    • Syndrome de Leigh avec deficit en cytochrome c oxidase lie a une mutation homozygote du gene SURF1
    • in French
    • Monnot S, Chabrol B, Cano A, et al. Syndrome de Leigh avec deficit en cytochrome c oxidase lie a une mutation homozygote du gene SURF1 (in French). Arch Pediat 2005;12:568-71.
    • (2005) Arch Pediat , vol.12 , pp. 568-571
    • Monnot, S.1    Chabrol, B.2    Cano, A.3
  • 27
    • 33644816856 scopus 로고    scopus 로고
    • Retrospective, multicentric study of 180 children with cytochrome c oxidase deficiency
    • Bohm M, Pronicka E, Karczmarewicz E, et al. Retrospective, multicentric study of 180 children with cytochrome c oxidase deficiency. Ped Res 2006;59:21-6.
    • (2006) Ped Res , vol.59 , pp. 21-26
    • Bohm, M.1    Pronicka, E.2    Karczmarewicz, E.3
  • 28
    • 27444441924 scopus 로고    scopus 로고
    • Hypertrichosis in patients with SURF1 mutations
    • Ostergaard E, Bradinova I, Ravn SH, et al. Hypertrichosis in patients with SURF1 mutations. Am J Med Genet 2005;138A:384-8.
    • (2005) Am J Med Genet , vol.138 A , pp. 384-388
    • Ostergaard, E.1    Bradinova, I.2    Ravn, S.H.3
  • 29
    • 33745517589 scopus 로고    scopus 로고
    • Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation
    • Van Riesen AKJ, Antonicka H, Ohlenbusch A, et al. Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation. Neuropediatrics 2006;37:88- 94.
    • (2006) Neuropediatrics , vol.37 , pp. 88-94
    • Van Riesen, A.K.J.1    Antonicka, H.2    Ohlenbusch, A.3
  • 30
    • 33746077185 scopus 로고    scopus 로고
    • Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations
    • Coenen MJH, Smeitink JAM, Pots JM, et al. Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations. J Child Neurol 2006;21:508-11.
    • (2006) J Child Neurol , vol.21 , pp. 508-511
    • Coenen, M.J.H.1    Smeitink, J.A.M.2    Pots, J.M.3
  • 31
    • 33645522116 scopus 로고    scopus 로고
    • Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome
    • Yang Y-I, Sun F, Zhang Y, et al. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome. Chinese Medical Journal 2006;119:373-7.
    • (2006) Chinese Medical Journal , vol.119 , pp. 373-377
    • Yang, Y.-I.1    Sun, F.2    Zhang, Y.3
  • 32
    • 33744814911 scopus 로고    scopus 로고
    • Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency
    • Yuksel A, Seven M, Cetincelik U, et al. Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency. Pediatr Neurol 2006;34:486-9.
    • (2006) Pediatr Neurol , vol.34 , pp. 486-489
    • Yuksel, A.1    Seven, M.2    Cetincelik, U.3
  • 33
    • 10644225224 scopus 로고    scopus 로고
    • Pathology of skeletal muscle in mitochondrial disorder
    • Bourgeois J, Tarnopolski M. Pathology of skeletal muscle in mitochondrial disorder. Mitochondrion 2004;4:441-52.
    • (2004) Mitochondrion , vol.4 , pp. 441-452
    • Bourgeois, J.1    Tarnopolski, M.2
  • 34
    • 15944396616 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathies: An update
    • DiMauro S, Hirano M. Mitochondrial encephalomyopathies: an update. Neuromuscul Disord 2005;15:276-86.
    • (2005) Neuromuscul Disord , vol.15 , pp. 276-286
    • DiMauro, S.1    Hirano, M.2
  • 35
    • 0029985716 scopus 로고    scopus 로고
    • Leigh syndrome: Clinical features and biochemical and DNA abnormalities
    • Rahman S, Blok R, Dahl H-H, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:343-51.
    • (1996) Ann Neurol , vol.39 , pp. 343-351
    • Rahman, S.1    Blok, R.2    Dahl, H.-H.3
  • 36
    • 42049101776 scopus 로고    scopus 로고
    • Compulsory hyperventilation and hypocapnia of patients with Surf-1 gene mutations as a cause of low serum bicarbonates
    • Pronicka E, Piekutowska-Abramczuk DH, Popowska E, et al. Compulsory hyperventilation and hypocapnia of patients with Surf-1 gene mutations as a cause of low serum bicarbonates. J Inherit Metab Dis 2001;24:717-14.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 717-814
    • Pronicka, E.1    Piekutowska-Abramczuk, D.H.2    Popowska, E.3
  • 37
    • 0021121396 scopus 로고
    • Metabolic acidosis versus a compensation of respiratory alkalosis in four children with Leigh disease
    • Pronicka E, Halikowski B. Metabolic acidosis versus a compensation of respiratory alkalosis in four children with Leigh disease. J Inherit Metab Dis 1984;7(Suppl 2):113-4.
    • (1984) J Inherit Metab Dis , vol.7 , Issue.SUPPL. 2 , pp. 113-114
    • Pronicka, E.1    Halikowski, B.2
  • 38
    • 0042967519 scopus 로고    scopus 로고
    • Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome
    • Pecina P, Capkova M, Chowdhury SKR, et al. Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome. Bioch Biophys Acta 2003;1639:53-63.
    • (2003) Bioch Biophys Acta , vol.1639 , pp. 53-63
    • Pecina, P.1    Capkova, M.2    Chowdhury, S.K.R.3
  • 39
    • 0034811893 scopus 로고    scopus 로고
    • Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease
    • Wasniewska M, Karczmarewicz E, Pronicki M, et al. Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease. Biochem Biophys Res Commun 2001;283:687-93.
    • (2001) Biochem Biophys Res Commun , vol.283 , pp. 687-693
    • Wasniewska, M.1    Karczmarewicz, E.2    Pronicki, M.3
  • 40
    • 2342553529 scopus 로고    scopus 로고
    • Genetic defects of cytochrome c oxidase assembly
    • Pecina P, Houstkova H, Hansikova H, et al. Genetic defects of cytochrome c oxidase assembly. Physiol Res 2004;53(Suppl 1):S213-23.
    • (2004) Physiol Res , vol.53 , Issue.SUPPL. 1
    • Pecina, P.1    Houstkova, H.2    Hansikova, H.3
  • 41
    • 6044224891 scopus 로고    scopus 로고
    • Decreased affinity for oxygen of xytochrome c oxidase in Leigh syndrome caused by SURF1 mutations
    • Pecina P, Gnaiger E, Zeman J, et al. Decreased affinity for oxygen of xytochrome c oxidase in Leigh syndrome caused by SURF1 mutations. Am J Physiol Cell Physiol 2004;287:C1384-8.
    • (2004) Am J Physiol Cell Physiol , vol.287
    • Pecina, P.1    Gnaiger, E.2    Zeman, J.3
  • 42
    • 0022507036 scopus 로고
    • Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental retardation
    • Angelini C, Bresolin N, Pergolo G, et al. Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental retardation. Neurology 1986;36:1048-52.
    • (1986) Neurology , vol.36 , pp. 1048-1052
    • Angelini, C.1    Bresolin, N.2    Pergolo, G.3
  • 43
    • 0028868612 scopus 로고
    • Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: Genetic evidence based on patient's-derived rho° transformants
    • Tirani V, Munaro M, Sandona D, et al. Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho° transformants. Hum Mol Genet 1995;4:2017-23.
    • (1995) Hum Mol Genet , vol.4 , pp. 2017-2023
    • Tirani, V.1    Munaro, M.2    Sandona, D.3
  • 44
    • 0031058265 scopus 로고    scopus 로고
    • A single cell complementation class in common to several casus of cytochrome c oxidase defective Leigh's syndrome
    • Munaro M, Tirani V, Sandona D, et al. A single cell complementation class in common to several casus of cytochrome c oxidase defective Leigh's syndrome. Hum Mol Genet 1997;6:221-8.
    • (1997) Hum Mol Genet , vol.6 , pp. 221-228
    • Munaro, M.1    Tirani, V.2    Sandona, D.3
  • 45
    • 0025831999 scopus 로고
    • Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations
    • Van Coster R, Lombes A, De Vivo, et al. Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations. J Neurosci 1991;104:97-111.
    • (1991) J Neurosci , vol.104 , pp. 97-111
    • Van Coster, R.1    Lombes, A.2    Vivo, D.3
  • 46
    • 0027196164 scopus 로고
    • Interet des fibroblasts cutanes en culture pour le diagnostic des cytopathies mitochondriales. A propos de cinq observations de deficit en cytochrome oxidase
    • in French
    • Collombet JM, Zabot MT, Vidailhet M, et al. Interet des fibroblasts cutanes en culture pour le diagnostic des cytopathies mitochondriales. A propos de cinq observations de deficit en cytochrome oxidase (in French). Pediatrie 1993;48:287-95.
    • (1993) Pediatrie , vol.48 , pp. 287-295
    • Collombet, J.M.1    Zabot, M.T.2    Vidailhet, M.3
  • 47
    • 0037440750 scopus 로고    scopus 로고
    • Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice
    • Agostino A, Invernizzi F, Tiveron C, et al. Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. Hum Mol Genet 2003;12:399-413.
    • (2003) Hum Mol Genet , vol.12 , pp. 399-413
    • Agostino, A.1    Invernizzi, F.2    Tiveron, C.3
  • 48
    • 25144448783 scopus 로고    scopus 로고
    • Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormal in skeletal muscle
    • Enns G, Hoppel C, Dearmond S, et al. Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormal in skeletal muscle. Clin Genet 2005;68:337-48.
    • (2005) Clin Genet , vol.68 , pp. 337-348
    • Enns, G.1    Hoppel, C.2    Dearmond, S.3
  • 49
    • 0017659070 scopus 로고
    • Leigh's encephalopathy in a patients with cytochrome c oxidase deficiency in muscle tissue
    • Willems JL, Monnens LAH, Trijbels JMF, et al. Leigh's encephalopathy in a patients with cytochrome c oxidase deficiency in muscle tissue. Pediatrics 1977;60:850-7.
    • (1977) Pediatrics , vol.60 , pp. 850-857
    • Willems, J.L.1    Monnens, L.A.H.2    Trijbels, J.M.F.3
  • 50
    • 33645689913 scopus 로고    scopus 로고
    • The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report
    • Coenen MJH, Smeitink JAM, Farhoud MH, et al. The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report. J Inherit Metab Dis 2006;29:213-13.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 213-213
    • Coenen, M.J.H.1    Smeitink, J.A.M.2    Farhoud, M.H.3
  • 51
    • 0035096954 scopus 로고    scopus 로고
    • Mitochondrial myopathy and the role of the pathologist in the molecular era
    • Vogel H. Mitochondrial myopathy and the role of the pathologist in the molecular era. J Neuropathol Exp Neurol 2001;60:217-27.
    • (2001) J Neuropathol Exp Neurol , vol.60 , pp. 217-227
    • Vogel, H.1
  • 52
    • 30744467678 scopus 로고    scopus 로고
    • Investigation of children for mitochondriopathy confirms need for strict patient selection, improved morphological criteria, and better laboratory methods
    • Miles L, Wong BL, Dinopoulos A, et al. Investigation of children for mitochondriopathy confirms need for strict patient selection, improved morphological criteria, and better laboratory methods. Hum Pathol 2006;37:173-84.
    • (2006) Hum Pathol , vol.37 , pp. 173-184
    • Miles, L.1    Wong, B.L.2    Dinopoulos, A.3
  • 53
    • 0034058869 scopus 로고    scopus 로고
    • Childhood encephalopathies and myopathies: A prospective study in a defined population to assess the frequency of mitochondrial disorders
    • Uusimaa 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
    • Uusimaa, J.1    Remes, A.M.2    Rantala, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.