메뉴 건너뛰기




Volumn 304, Issue 1-2, 2011, Pages 9-16

Inherited mitochondrial neuropathies

Author keywords

Encephalomyopathy; Metabolic disease; Mitochondrial DNA; Multisystem disease; Nerve conduction; Neuromuscular; Neuropathy

Indexed keywords

ANTIOXIDANT; PYRUVATE DEHYDROGENASE COMPLEX; TRANSFER RNA;

EID: 79953311631     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2011.02.012     Document Type: Review
Times cited : (49)

References (121)
  • 1
    • 72449140657 scopus 로고    scopus 로고
    • Diagnosis and new treatments in genetic neuropathies
    • Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. J Neurol Neurosurg Psychiatry 2009;80:1304-14.
    • (2009) J Neurol Neurosurg Psychiatry , vol.80 , pp. 1304-1314
    • Reilly, M.M.1    Shy, M.E.2
  • 2
    • 0037972522 scopus 로고    scopus 로고
    • Mitochondrial respiratory-chain diseases
    • DOI 10.1056/NEJMra022567
    • DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003;348:2656-68. (Pubitemid 36741594)
    • (2003) New England Journal of Medicine , vol.348 , Issue.26 , pp. 2656-2668
    • DiMauro, S.1    Schon, E.A.2
  • 3
    • 33645473866 scopus 로고    scopus 로고
    • Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot- Marie-Tooth disease 1A
    • Corrado G, Checcarelli N, Santarone M, Stöllberger C, Finsterer J. Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot- Marie-Tooth disease 1A. Cardiology 2006;105:142-5.
    • (2006) Cardiology , vol.105 , pp. 142-145
    • Corrado, G.1    Checcarelli, N.2    Santarone, M.3    Stöllberger, C.4    Finsterer, J.5
  • 6
    • 17044369933 scopus 로고    scopus 로고
    • Mitochondrial neuropathy
    • Finsterer J. Mitochondrial neuropathy. Clin Neurol Neurosurg 2005;107:181-6.
    • (2005) Clin Neurol Neurosurg , vol.107 , pp. 181-186
    • Finsterer, J.1
  • 7
    • 71349083138 scopus 로고    scopus 로고
    • Peripheral neuropathies due to mitochondrial disorders
    • Paris
    • Funalot B. Peripheral neuropathies due to mitochondrial disorders. Rev Neurol (Paris) 2009;165:1118-21.
    • (2009) Rev Neurol , vol.165 , pp. 1118-1121
    • Funalot, B.1
  • 8
    • 77952530338 scopus 로고
    • Mitochondrial disorders overview
    • updated Pagon RA, Bird TC, Dolan CR, Stephens K, editors. Seattle (WA): University of Washington, Seattle; 2000. Available from
    • Chinnery PF. Mitochondrial disorders overview. [updated 2010] In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 2000. 1993-. Available from http://www.ncbi. nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mt-overview.
    • (1993) GeneReviews [Internet]
    • Chinnery, P.F.1
  • 9
    • 70450206923 scopus 로고    scopus 로고
    • European Federation of Neurological Sciences. EFNS guidelines on the molecular diagnosis of mitochondrial disorders
    • Finsterer J, Harbo HF, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, et al. European Federation of Neurological Sciences. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol 2009;16:1255-64.
    • (2009) Eur J Neurol , vol.16 , pp. 1255-1264
    • Finsterer, J.1    Harbo, H.F.2    Baets, J.3    Van Broeckhoven, C.4    Di Donato, S.5    Fontaine, B.6
  • 10
    • 77955330843 scopus 로고    scopus 로고
    • A neurological perspective on mitochondrial disease
    • McFarland R, Taylor RW, Turnbull DM. A neurological perspective on mitochondrial disease. Lancet Neurol 2010;9:829-40.
    • (2010) Lancet Neurol , vol.9 , pp. 829-840
    • McFarland, R.1    Taylor, R.W.2    Turnbull, D.M.3
  • 11
    • 0025267548 scopus 로고
    • A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
    • Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-33.
    • (1990) Am J Hum Genet , vol.46 , pp. 428-433
    • Holt, I.J.1    Harding, A.E.2    Petty, R.K.3    Morgan-Hughes, J.A.4
  • 12
    • 0030818636 scopus 로고    scopus 로고
    • Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation
    • Santorelli FM, Tanji K, Shanske S, DiMauro S. Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. Neurology 1997;49:270-3. (Pubitemid 27328719)
    • (1997) Neurology , vol.49 , Issue.1 , pp. 270-273
    • Santorelli, F.M.1    Tanji, K.2    Shanske, S.3    DiMauro, S.4
  • 13
    • 84862180122 scopus 로고
    • Mitochondrial DNA-associated Leigh syndrome and NARP
    • updated Pagon RA, Bird TC, Dolan CR, Stephens K, editors. Seattle (WA): University of Washington, Seattle; 2003. Available from
    • Thorburn DR, Rahman S. Mitochondrial DNA-associated Leigh syndrome and NARP. . [updated 2006]In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 2003. 1993-. Available fromhttp://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi? book=gene&part=narp.
    • (1993) GeneReviews [Internet]
    • Thorburn, D.R.1    Rahman, S.2
  • 14
    • 44349099276 scopus 로고    scopus 로고
    • Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene
    • DOI 10.1055/s-2008-1065355
    • Childs AM, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, et al. Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. Neuropediatrics 2007;38:313-6. (Pubitemid 351737992)
    • (2007) Neuropediatrics , vol.38 , Issue.6 , pp. 313-316
    • Childs, A.-M.1    Hutchin, T.2    Pysden, K.3    Highet, L.4    Bamford, J.5    Livingston, J.6    Crow, Y.J.7
  • 17
    • 68249142763 scopus 로고    scopus 로고
    • Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations
    • Funalot B, Magdelaine C, Sturtz F, Ouvrier R, Vallat JM. Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations. Bull Acad Natl Méd 2009;193:151-60.
    • (2009) Bull Acad Natl Méd , vol.193 , pp. 151-160
    • Funalot, B.1    Magdelaine, C.2    Sturtz, F.3    Ouvrier, R.4    Vallat, J.M.5
  • 18
    • 77949801029 scopus 로고    scopus 로고
    • Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex
    • Misko A, Jiang S, Wegorzewska I, Milbrandt J, Baloh RH. Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex. J Neurosci 2010;30:4232-40.
    • (2010) J Neurosci , vol.30 , pp. 4232-4240
    • Misko, A.1    Jiang, S.2    Wegorzewska, I.3    Milbrandt, J.4    Baloh, R.H.5
  • 19
    • 64149125383 scopus 로고    scopus 로고
    • Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
    • Cassereau J, Chevrollier A, Gueguen N, Malinge MC, Letournel F, Nicolas G, et al. Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics 2009;10:145-50.
    • (2009) Neurogenetics , vol.10 , pp. 145-150
    • Cassereau, J.1    Chevrollier, A.2    Gueguen, N.3    Malinge, M.C.4    Letournel, F.5    Nicolas, G.6
  • 21
    • 77957794066 scopus 로고    scopus 로고
    • The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2 K
    • Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, et al. The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2 K. J Med Genet 2010;47:712-6.
    • (2010) J Med Genet , vol.47 , pp. 712-716
    • Crimella, C.1    Tonelli, A.2    Airoldi, G.3    Baschirotto, C.4    D'Angelo, M.G.5    Bonato, S.6
  • 22
    • 70350348361 scopus 로고    scopus 로고
    • GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance
    • Niemann A, Wagner KM, Ruegg M, Suter U. GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. Neurobiol Dis 2009;36:509-20.
    • (2009) Neurobiol Dis , vol.36 , pp. 509-520
    • Niemann, A.1    Wagner, K.M.2    Ruegg, M.3    Suter, U.4
  • 23
    • 17744376804 scopus 로고    scopus 로고
    • GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
    • DOI 10.1093/hmg/ddi121
    • Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet 2005;14:1087-94. (Pubitemid 40575884)
    • (2005) Human Molecular Genetics , vol.14 , Issue.8 , pp. 1087-1094
    • Pedrola, L.1    Espert, A.2    Wu, X.3    Claramunt, R.4    Shy, M.E.5    Palau, F.6
  • 24
    • 70349771513 scopus 로고    scopus 로고
    • Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation)
    • Sahin-Calapoglu N, Tan M, Soyoz M, Calapoglu M, Ozcelik N. Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation). Neuromolecular Med 2009;11:106-13.
    • (2009) Neuromolecular Med , vol.11 , pp. 106-113
    • Sahin-Calapoglu, N.1    Tan, M.2    Soyoz, M.3    Calapoglu, M.4    Ozcelik, N.5
  • 25
    • 64549145476 scopus 로고    scopus 로고
    • Targeting and function of the mitochondrial fission factor GDAP1 are dependent on its tail-anchor
    • Wagner KM, Rüegg M, Niemann A, Suter U. Targeting and function of the mitochondrial fission factor GDAP1 are dependent on its tail-anchor. PLoS ONE 2009;4:e5160.
    • (2009) PLoS ONE , vol.4
    • Wagner, K.M.1    Rüegg, M.2    Niemann, A.3    Suter, U.4
  • 27
    • 0025666322 scopus 로고
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-3. (Pubitemid 120015131)
    • (1990) Nature , vol.348 , Issue.6302 , pp. 651-653
    • Goto, Y.-I.1    Nonaka, I.2    Horai, S.3
  • 28
    • 0037320204 scopus 로고    scopus 로고
    • Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA
    • DOI 10.1007/s00415-003-0981-8
    • Kärppä M, Syrjälä P, Tolonen U, Majamaa K. Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA. J Neurol 2003;250:216-21. (Pubitemid 36223098)
    • (2003) Journal of Neurology , vol.250 , Issue.2 , pp. 216-221
    • Karppa, M.1    Syrjala, P.2    Tolonen, U.3    Majamaa, K.4
  • 29
    • 0030733156 scopus 로고    scopus 로고
    • A case of mitochondrial myopathy with MELAS-like features and polyneuropathy: Ultrastructural and molecular studies
    • Klimek A, Suomalainen A, Bratosiewicz J, Niewinowska-Rupf K, Bogucki A, Liberski PP. A case of mitochondrial myopathy with MELAS-like features and polyneuropathy: ultrastructural and molecular studies. Pol J Pathol 1997;48:197-200.
    • (1997) Pol J Pathol , vol.48 , pp. 197-200
    • Klimek, A.1    Suomalainen, A.2    Bratosiewicz, J.3    Niewinowska-Rupf, K.4    Bogucki, A.5    Liberski, P.P.6
  • 30
    • 0029064007 scopus 로고
    • Demyelinating polyneuropathy in a patient with the tRNA(Leu)(UUR) mutation at base pair 3243 of the mitochondrial DNA
    • Rusanen H, Majamaa K, Tolonen U, Remes AM, Myllylä R, Hassinen IE. Demyelinating polyneuropathy in a patient with the tRNA(Leu)(UUR) mutation at base pair 3243 of the mitochondrial DNA. Neurology 1995;45:1188-92.
    • (1995) Neurology , vol.45 , pp. 1188-1192
    • Rusanen, H.1    Majamaa, K.2    Tolonen, U.3    Remes, A.M.4    Myllylä, R.5    Hassinen, I.E.6
  • 31
    • 0025895155 scopus 로고
    • Peripheral neuropathy of mitochondrial myopathies
    • Paris
    • Mizusawa H, Ohkoshi N, Watanabe M, Kanazawa I. Peripheral neuropathy of mitochondrial myopathies. Rev Neurol (Paris) 1991;147:501-7.
    • (1991) Rev Neurol , vol.147 , pp. 501-507
    • Mizusawa, H.1    Ohkoshi, N.2    Watanabe, M.3    Kanazawa, I.4
  • 32
  • 33
    • 0027158417 scopus 로고
    • Neuropathy associated with mitochondrial disorders
    • Schröder JM. Neuropathy associated with mitochondrial disorders. Brain Pathol 1993;3:177-90. (Pubitemid 23139419)
    • (1993) Brain Pathology , vol.3 , Issue.2 , pp. 177-190
    • Schroder, J.M.1
  • 34
    • 0002440530 scopus 로고    scopus 로고
    • Clinical features of mitochondrial myopathies and encephalomyopathies
    • Lane RJM, editor. New York: Marcel Dekker Inc
    • Hirano M, DiMauro S. Clinical features of mitochondrial myopathies and encephalomyopathies. In: Lane RJM, editor. Handbook of Muscle Disease, vol. 1. New York: Marcel Dekker Inc; 1996. p. 479-504.
    • (1996) Handbook of Muscle Disease , vol.1 , pp. 479-504
    • Hirano, M.1    DiMauro, S.2
  • 36
    • 34249697553 scopus 로고    scopus 로고
    • Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation
    • DOI 10.1016/j.ejpn.2007.01.004, PII S1090379807000074
    • van de Glind G, de Vries M, Rodenburg R, Hol F, Smeitink J, Morava E. Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation. Eur J Paediatr Neurol 2007;11:243-6. (Pubitemid 46832168)
    • (2007) European Journal of Paediatric Neurology , vol.11 , Issue.4 , pp. 243-246
    • Van De, G.G.1    De Vries, M.2    Rodenburg, R.3    Hol, F.4    Smeitink, J.5    Morava, E.6
  • 37
    • 33846040667 scopus 로고    scopus 로고
    • Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys
    • DOI 10.1212/01.wnl.0000250334.48038.7a, PII 0000611420070102000016
    • Horvath R, Kley RA, Lochmuller H, Vorgerd M. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology 2007;68:56-8. (Pubitemid 46058553)
    • (2007) Neurology , vol.68 , Issue.1 , pp. 56-58
    • Horvath, R.1    Kley, R.A.2    Lochmuller, H.3    Vorgerd, M.4
  • 38
    • 0038422204 scopus 로고    scopus 로고
    • Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA
    • DOI 10.1002/mds.10428
    • Peng Y, Crumley R, Ringman JM. Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA. Mov Disord 2003;18:716-8. (Pubitemid 36790293)
    • (2003) Movement Disorders , vol.18 , Issue.6 , pp. 716-718
    • Peng, Y.1    Crumley, R.2    Ringman, J.M.3
  • 41
    • 0034990893 scopus 로고    scopus 로고
    • A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA
    • DOI 10.1016/S0960-8966(01)00190-0, PII S0960896601001900
    • Nagashima T, Kato H, Maguchi S, Chuma T, Mano Y, Goto Y, et al. A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA. Neuromuscul Disord 2001;11:470-6. (Pubitemid 32510007)
    • (2001) Neuromuscular Disorders , vol.11 , Issue.5 , pp. 470-476
    • Nagashima, T.1    Kato, H.2    Maguchi, S.3    Chuma, T.4    Mano, Y.5    Goto, Y.6    Nonaka, I.7    Nagashima, K.8
  • 42
    • 30344459710 scopus 로고    scopus 로고
    • Multiple lipomas, alcoholism, and neuropathy: Madelung's disease or MERRF?
    • Schoffer K, Grant I. Multiple lipomas, alcoholism, and neuropathy: Madelung's disease or MERRF? Muscle Nerve 2006;33:142-6.
    • (2006) Muscle Nerve , vol.33 , pp. 142-146
    • Schoffer, K.1    Grant, I.2
  • 43
    • 63749113046 scopus 로고    scopus 로고
    • Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys
    • Erol I, Alehan F, Horvath R, Schneiderat P, Talim B. Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys. Neuromuscul Disord 2009;19:275-8.
    • (2009) Neuromuscul Disord , vol.19 , pp. 275-278
    • Erol, I.1    Alehan, F.2    Horvath, R.3    Schneiderat, P.4    Talim, B.5
  • 44
    • 0031005697 scopus 로고    scopus 로고
    • Mitochondrial dysfunction with myoclonus epilepsy and ragged red fibers point mutation in nerve, muscle, and adipose tissue of a patient with multiple symmetric lipomatosis
    • DOI 10.1002/(SICI)1097-4598(199707)20:7<833::AID-MUS7>3.0.CO;2-8
    • Naumann M, Kiefer R, Toyka KV, Sommer C, Seibel P, Reichmann H. Mitochondrial dysfunction with myoclonus epilepsy and ragged-red fibers point mutation in nerve, muscle, and adipose tissue of a patient with multiple symmetric lipomatosis. Muscle Nerve 1997;20:833-9. (Pubitemid 27250669)
    • (1997) Muscle and Nerve , vol.20 , Issue.7 , pp. 833-839
    • Naumann, M.1    Kiefer, R.2    Toyka, K.V.3    Sommer, C.4    Seibel, P.5    Reichmann, H.6
  • 46
    • 2542509663 scopus 로고    scopus 로고
    • A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation
    • Bhatti MT, Newman NJ. A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation. J Neuroophthalmol 1999;19:28-33. (Pubitemid 30249281)
    • (1999) Journal of Neuro-Ophthalmology , vol.19 , Issue.1 , pp. 28-33
    • Tariq, B.M.1    Newman, N.J.2
  • 48
    • 62349137297 scopus 로고    scopus 로고
    • Case of Leber's hereditary optic neuropathy with mitochondrial DNA 11778 mutation exhibiting cerebellar ataxia, dilated cardiomyopathy and peripheral neuropathy
    • Watanabe Y, Odaka M, Hirata K. Case of Leber's hereditary optic neuropathy with mitochondrial DNA 11778 mutation exhibiting cerebellar ataxia, dilated cardiomyopathy and peripheral neuropathy. Brain Nerve 2009;61:309-12.
    • (2009) Brain Nerve , vol.61 , pp. 309-312
    • Watanabe, Y.1    Odaka, M.2    Hirata, K.3
  • 49
    • 33744974249 scopus 로고    scopus 로고
    • Demyelinating polyneuropathy in Leber hereditary optic neuropathy
    • DOI 10.1016/j.nmd.2006.03.006, PII S0960896606000927
    • Gilhuis HJ, Schelhaas HJ, Cruysberg JR, Zwarts MJ. Demyelinating polyneuropathy in Leber hereditary optic neuropathy. Neuromuscul Disord 2006;16:394-5. (Pubitemid 43866495)
    • (2006) Neuromuscular Disorders , vol.16 , Issue.6 , pp. 394-395
    • Gilhuis, H.J.1    Schelhaas, H.J.2    Cruysberg, J.R.M.3    Zwarts, M.J.4
  • 51
    • 55949107826 scopus 로고    scopus 로고
    • Kearns-Sayre syndrome: Electro-vectorcardiographic evolution for left septal fascicular block of the his bundle
    • Riera AR, Kaiser E, Levine P, Schapachnik E, Dubner S, Ferreira C, et al. Kearns-Sayre syndrome: electro-vectorcardiographic evolution for left septal fascicular block of the his bundle. J Electrocardiol 2008;41:675-8.
    • (2008) J Electrocardiol , vol.41 , pp. 675-678
    • Riera, A.R.1    Kaiser, E.2    Levine, P.3    Schapachnik, E.4    Dubner, S.5    Ferreira, C.6
  • 53
    • 0032037760 scopus 로고    scopus 로고
    • Mitochondrial genetics '98 is the bottleneck cracked?
    • Poulton J, Macaulay V, Marchington DR. Mitochondrial genetics '98 is the bottleneck cracked? Am J Hum Genet 1998;62:752-7.
    • (1998) Am J Hum Genet , vol.62 , pp. 752-757
    • Poulton, J.1    Macaulay, V.2    Marchington, D.R.3
  • 56
    • 0025900135 scopus 로고
    • Clinical and electrophysiologic study of the peripheral nerve in 28 cases of mitochondrial disease
    • Paris
    • Eymard B, Penicaud A, Leger JM, Romero N, Marsac C, Fardeau M, et al. Clinical and electrophysiologic study of the peripheral nerve in 28 cases of mitochondrial disease. Rev Neurol (Paris) 1991;147:508-12.
    • (1991) Rev Neurol , vol.147 , pp. 508-512
    • Eymard, B.1    Penicaud, A.2    Leger, J.M.3    Romero, N.4    Marsac, C.5    Fardeau, M.6
  • 57
    • 0031732194 scopus 로고    scopus 로고
    • Mitochondrial cytochrome b gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy
    • Zanssen S, Molnar M, Buse G, Schröder JM. Mitochondrial cytochrome b gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy. Clin Neuropathol 1998;17:291-6. (Pubitemid 28505756)
    • (1998) Clinical Neuropathology , vol.17 , Issue.6 , pp. 291-296
    • Zanssen, S.1    Molnar, M.2    Buse, G.3    Schroder, J.M.4
  • 58
    • 0028817857 scopus 로고
    • Increase of mitochondria in vasa nervorum of cases with mitochondrial myopathy, Kearns-Sayre syndrome, progressive external ophthalmoplegia and MELAS
    • Molnar M, Neudecker S, Schröder JM. Increase of mitochondria in vasa nervorum of cases with mitochondrial myopathy, Kearns-Sayre syndrome, progressive external ophthalmoplegia and MELAS. Neuropathol Appl Neurobiol 1995;21:432-9.
    • (1995) Neuropathol Appl Neurobiol , vol.21 , pp. 432-439
    • Molnar, M.1    Neudecker, S.2    Schröder, J.M.3
  • 60
    • 0034943967 scopus 로고    scopus 로고
    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    • DOI 10.1038/90034
    • Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001;28:211-2. (Pubitemid 32626018)
    • (2001) Nature Genetics , vol.28 , Issue.3 , pp. 211-212
    • Van Goethem, G.1    Dermaut, B.2    Lofgren, A.3    Martin, J.-J.4    Van Broeckhoven, C.5
  • 63
    • 0029978895 scopus 로고    scopus 로고
    • Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism
    • DOI 10.1002/(SICI)1097-4598(199606)19:6<751::AID-MUS10>3.0.CO;2-O
    • Melberg A, Lundberg PO, Henriksson KG, Olsson Y, Stålberg E. Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. Muscle Nerve 1996;19:751-7. (Pubitemid 26134586)
    • (1996) Muscle and Nerve , vol.19 , Issue.6 , pp. 751-757
    • Melberg, A.1    Lundberg, P.O.2    Henriksson, K.G.3    Olsson, Y.4    Stalberg, E.5
  • 66
    • 0031803720 scopus 로고    scopus 로고
    • Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome
    • DOI 10.1016/S0960-8966(98)00017-0, PII S0960896698000170
    • Makino M, Horai S, Goto Y, Nonaka I. Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome. Neuromuscul Disord 1998;8:149-51. (Pubitemid 28246109)
    • (1998) Neuromuscular Disorders , vol.8 , Issue.3-4 , pp. 149-151
    • Makino, M.1    Horai, S.2    Goto, Y.-I.3    Nonaka, I.4
  • 67
    • 34548329866 scopus 로고    scopus 로고
    • Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
    • Debray FG, Lambert M, Lortie A, Vanasse M, Mitchell GA. Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation. Am J Med Genet A 2007;143A:2046-51.
    • (2007) Am J Med Genet A , vol.143 A , pp. 2046-2051
    • Debray, F.G.1    Lambert, M.2    Lortie, A.3    Vanasse, M.4    Mitchell, G.A.5
  • 68
    • 0034910899 scopus 로고    scopus 로고
    • High mitochondrial DNA T8993G mutation (>90%) without typical features of leigh's and NARP syndromes
    • Tsao CY, Mendell JR, Bartholomew D. High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes. J Child Neurol 2001;16:533-5. (Pubitemid 32725393)
    • (2001) Journal of Child Neurology , vol.16 , Issue.7 , pp. 533-535
    • Tsao, C.-Y.1    Mendell, J.R.2    Bartholomew, D.3
  • 69
    • 67649833762 scopus 로고    scopus 로고
    • Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome
    • Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, et al. Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nat Genet 2009;41:833-7.
    • (2009) Nat Genet , vol.41 , pp. 833-837
    • Weraarpachai, W.1    Antonicka, H.2    Sasarman, F.3    Seeger, J.4    Schrank, B.5    Kolesar, J.E.6
  • 71
    • 0034051654 scopus 로고    scopus 로고
    • Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
    • Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, et al. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat 2000;15:209-19.
    • (2000) Hum Mutat , vol.15 , pp. 209-219
    • Lissens, W.1    De Meirleir, L.2    Seneca, S.3    Liebaers, I.4    Brown, G.K.5    Brown, R.M.6
  • 74
    • 0027516078 scopus 로고
    • Leigh disease presenting as Guillain-Barre syndrome
    • DOI 10.1016/0887-8994(93)90013-3
    • Coker SB. Leigh disease presenting as Guillain-Barré syndrome. Pediatr Neurol 1993;9:61-3. (Pubitemid 23070100)
    • (1993) Pediatric Neurology , vol.9 , Issue.1 , pp. 61-63
    • Coker, S.B.1
  • 75
    • 0028039843 scopus 로고
    • Leigh syndrome: Pyruvate dehydrogenase defect. A case with peripheral neuropathy
    • Chabrol B, Mancini J, Benelli C, Gire C, Munnich A. Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy. J Child Neurol 1994;9:52-5. (Pubitemid 24022142)
    • (1994) Journal of Child Neurology , vol.9 , Issue.1 , pp. 52-55
    • Chabrol, B.1    Mancini, J.2    Benelli, C.3    Gire, C.4    Munnich, A.5
  • 76
    • 0041882240 scopus 로고    scopus 로고
    • Juvenile-onset Leigh syndrome with an acute polyneuropathy at presentation
    • Stickler DE, Carney PR, Valenstein ER. Juvenile-onset Leigh syndrome with an acute polyneuropathy at presentation. J Child Neurol 2003;18:574-6. (Pubitemid 37098636)
    • (2003) Journal of Child Neurology , vol.18 , Issue.8 , pp. 574-576
    • Stickler, D.E.1    Carney, P.R.2    Valenstein, E.R.3
  • 77
    • 0022920929 scopus 로고
    • Sural nerve biopsy studies in Leigh's subacute necrotizing encephalomyelopathy
    • Goebel HH, Bardosi A, Friede RL, Kohlschütter A, Albani M, Siemes H. Sural nerve biopsy studies in Leigh's subacute necrotizing encephalomyelopathy. Muscle Nerve 1986;9:165-73. (Pubitemid 16068915)
    • (1986) Muscle and Nerve , vol.9 , Issue.2 , pp. 165-173
    • Goebel, H.H.1    Bardosi, A.2    Friede, R.L.3
  • 81
    • 1442328925 scopus 로고    scopus 로고
    • MNGIE neuropathy: Five cases mimicking chrohic inflammatory demyelinating polyneuropathy
    • DOI 10.1002/mus.10546
    • Bedlack RS, Vu T, Hammans S, Sparr SA, Myers B, Morgenlander J, et al. MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy. Muscle Nerve 2004;29:364-8. (Pubitemid 38269754)
    • (2004) Muscle and Nerve , vol.29 , Issue.3 , pp. 364-368
    • Bedlack, R.S.1    Vu, T.2    Hammans, S.3    Sparr, S.A.4    Myers, B.5    Morgenlander, J.6    Hirano, M.7
  • 82
    • 0031410918 scopus 로고    scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy presenting with protein-losing gastroenteropathy and serum copper deficiency: A case report
    • Hamano H, Ohta T, Takekawa Y, Kouda K, Shinohara Y. Mitochondrial neurogastrointestinal encephalomyopathy presenting with protein-losing gastroenteropathy and serum copper deficiency: a case report. Rinsho Shinkeigaku 1997;37:917-22. (Pubitemid 28071187)
    • (1997) Clinical Neurology , vol.37 , Issue.10 , pp. 917-922
    • Hamano, H.1    Ohta, T.2    Takekawa, Y.3    Kouda, K.4    Shinohara, Y.5
  • 85
    • 0346101693 scopus 로고    scopus 로고
    • A case of mitochondrial myopathy with external ophthalmoplegia and ataxic neuropathy
    • Mano A, Kikukawa H, Tsuchiya T, Tanaka K, Tanaka M. A case of mitochondrial myopathy with external ophthalmoplegia and ataxic neuropathy. Rinsho Shinkeigaku 2003;43:564-7. (Pubitemid 38036126)
    • (2003) Clinical Neurology , vol.43 , Issue.9 , pp. 564-567
    • Mano, A.1    Kikukawa, H.2    Tsuchiya, T.3    Tanaka, K.4    Tanaka, M.5
  • 88
    • 2342630577 scopus 로고    scopus 로고
    • SANDO: Another presentation of mitochondrial disease
    • DOI 10.1016/j.ajo.2003.10.046, PII S0002939403014090
    • Okun MS, Bhatti MT. SANDO: another presentation of mitochondrial disease. Am J Ophthalmol 2004;137:951-3. (Pubitemid 38582059)
    • (2004) American Journal of Ophthalmology , vol.137 , Issue.5 , pp. 951-953
    • Okun, M.S.1    Bhatti, M.T.2
  • 89
    • 77957148442 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia
    • Barc
    • Posada IJ, Gallardo ME, Domínguez C, Rivera H, Cabello A, Arenas J, et al. Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia. Med Clin (Barc) 2010;135:452-5.
    • (2010) Med Clin , vol.135 , pp. 452-455
    • Posada, I.J.1    Gallardo, M.E.2    Domínguez, C.3    Rivera, H.4    Cabello, A.5    Arenas, J.6
  • 92
    • 56049111329 scopus 로고    scopus 로고
    • Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion
    • Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, et al. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Mol Genet 2008;17:3822-35.
    • (2008) Hum Mol Genet , vol.17 , pp. 3822-3835
    • Hakonen, A.H.1    Goffart, S.2    Marjavaara, S.3    Paetau, A.4    Cooper, H.5    Mattila, K.6
  • 95
    • 33751110611 scopus 로고    scopus 로고
    • Alpers syndrome: Progressive neuronal degeneration of children with liver disease
    • DOI 10.1017/S0012162206002209, PII S0012162206002209
    • Gordon N. Alpers syndrome: progressive neuronal degeneration of children with liver disease. Dev Med Child Neurol 2006;48:1001-3. (Pubitemid 44768806)
    • (2006) Developmental Medicine and Child Neurology , vol.48 , Issue.12 , pp. 1001-1003
    • Gordon, N.1
  • 96
    • 24644436790 scopus 로고    scopus 로고
    • POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion [4]
    • DOI 10.1002/ana.20544
    • Naviaux RK, Nguyen KV. POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. Ann Neurol 2005;58:491. (Pubitemid 41266643)
    • (2005) Annals of Neurology , vol.58 , Issue.3 , pp. 491
    • Naviaux, R.K.1    Nguyen, K.V.2
  • 97
    • 4444276204 scopus 로고    scopus 로고
    • POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions
    • Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, Bresolin N, et al. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Hum Mutat 2003;22:498-9.
    • (2003) Hum Mutat , vol.22 , pp. 498-499
    • Di Fonzo, A.1    Bordoni, A.2    Crimi, M.3    Sara, G.4    Del Bo, R.5    Bresolin, N.6
  • 101
    • 35649024143 scopus 로고    scopus 로고
    • Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
    • DOI 10.1093/brain/awm242
    • Hakonen AH, Isohanni P, Paetau A, Herva R, Suomalainen A, Lönnqvist T. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 2007;130:3032-40. (Pubitemid 350033977)
    • (2007) Brain , vol.130 , Issue.11 , pp. 3032-3040
    • Hakonen, A.H.1    Isohanni, P.2    Paetau, A.3    Herva, R.4    Suomalainen, A.5    Lonnqvist, T.6
  • 102
    • 0038621826 scopus 로고    scopus 로고
    • A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease
    • Uusimaa J, Finnilä S, Vainionpää L, Kärppä M, Herva R, Rantala H, et al. A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease. Pediatrics 2003;111:e262-8.
    • (2003) Pediatrics , vol.111
    • Uusimaa, J.1    Finnilä, S.2    Vainionpää, L.3    Kärppä, M.4    Herva, R.5    Rantala, H.6
  • 103
    • 70349488018 scopus 로고    scopus 로고
    • Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk
    • Lamperti C, Zeviani M. Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk. Acta Myol 2009;28:2-11.
    • (2009) Acta Myol , vol.28 , pp. 2-11
    • Lamperti, C.1    Zeviani, M.2
  • 104
    • 0037495053 scopus 로고    scopus 로고
    • Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease
    • DOI 10.1007/s00415-003-1065-5
    • Simonati A, Filosto M, Tomelleri G, Savio C, Tonin P, Polo A, et al. Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease. J Neurol 2003;250:702-6. (Pubitemid 36718359)
    • (2003) Journal of Neurology , vol.250 , Issue.6 , pp. 702-706
    • Simonati, A.1    Filosto, M.2    Tomelleri, G.3    Savio, C.4    Tonin, P.5    Polo, A.6    Rizzuto, N.7
  • 105
    • 38949188752 scopus 로고    scopus 로고
    • Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
    • Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, et al. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat 2008;29:330-1.
    • (2008) Hum Mutat , vol.29 , pp. 330-331
    • Dimmock, D.P.1    Zhang, Q.2    Dionisi-Vici, C.3    Carrozzo, R.4    Shieh, J.5    Tang, L.Y.6
  • 106
    • 34250662313 scopus 로고    scopus 로고
    • Disorders of nuclear-mitochondrial intergenomic communication
    • DOI 10.1007/s10540-007-9036-1
    • Spinazzola A, Zeviani M. Disorders of nuclear-mitochondrial intergenomic communication. Biosci Rep 2007;27:39-51. (Pubitemid 46940937)
    • (2007) Bioscience Reports , vol.27 , Issue.1-3 , pp. 39-51
    • Spinazzola, A.1    Zeviani, M.2
  • 107
    • 33646376465 scopus 로고    scopus 로고
    • MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
    • Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006;38:570-5.
    • (2006) Nat Genet , vol.38 , pp. 570-575
    • Spinazzola, A.1    Viscomi, C.2    Fernandez-Vizarra, E.3    Carrara, F.4    D'Adamo, P.5    Calvo, S.6
  • 108
    • 0027240924 scopus 로고
    • Familial sensory autonomic neuropathy with arthropathy in Navajo children
    • Johnsen SD, Johnson PC, Stein SR. Familial sensory autonomic neuropathy with arthropathy in Navajo children. Neurology 1993;43:1120-5. (Pubitemid 23177710)
    • (1993) Neurology , vol.43 , Issue.6 , pp. 1120-1125
    • Johnsen, S.D.1    Johnson, P.C.2    Stein, S.R.3
  • 110
    • 0017192670 scopus 로고
    • Acromutilating, paralyzing neuropathy with corneal ulceration in Navajo children
    • Appenzeller O, Kornfeld M, Snyder R. Acromutilating, paralyzing neuropathy with corneal ulceration in Navajo children. Arch Neurol 1976;33:733-8.
    • (1976) Arch Neurol , vol.33 , pp. 733-738
    • Appenzeller, O.1    Kornfeld, M.2    Snyder, R.3
  • 112
    • 0032569825 scopus 로고    scopus 로고
    • Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): Neuropathological features
    • DOI 10.1016/S0022-510X(98)00249-4, PII S0022510X98002494
    • Lönnqvist T, Paetau A, Nikali K, von Boguslawski K, Pihko H. Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features. J Neurol Sci 1998;161:57-65. (Pubitemid 28559184)
    • (1998) Journal of the Neurological Sciences , vol.161 , Issue.1 , pp. 57-65
    • Lonnqvist, T.1    Paetau, A.2    Nikali, K.3    Von Boguslawski, K.4    Pihko, H.5
  • 113
  • 114
    • 0028218559 scopus 로고
    • Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA)
    • Koskinen T, Sainio K, Rapola J, Pihko H, Paetau A. Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). Muscle Nerve 1994;17:509-15. (Pubitemid 24143330)
    • (1994) Muscle and Nerve , vol.17 , Issue.5 , pp. 509-515
    • Koskinen, T.1    Sainio, K.2    Rapola, J.3    Pihko, H.4    Paetau, A.5
  • 116
    • 38549119549 scopus 로고    scopus 로고
    • A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation
    • Liguori M, La Russa A, Manna I, Andreoli V, Caracciolo M, Spadafora P, et al. A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation. J Neurol 2008;255:127-9.
    • (2008) J Neurol , vol.255 , pp. 127-129
    • Liguori, M.1    La Russa, A.2    Manna, I.3    Andreoli, V.4    Caracciolo, M.5    Spadafora, P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.