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This is a genetically heterogeneous group of disorders Multiple mtDNA deletions were demonstrated
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SPECIFIC DISORDERS 23 Rosing HS, Hopkins LC, Wallace DC, et al Maternally inherited mitochondrial myopathy and myoclonic epilepsy Ann Neurol 1985;17:228 237 24 Silvestri G, Ciafoni E, Santorelli FM, et al Clinical features associated with the A G transition at nucleotide 8344 of mtDNA ( MERRF mutation ) Neurology 1993;43:1200 1206 25 Tsairis P, Engel WK, Kark P Familial myoclonic epilepsy syndrome associated with mitochondrial abnormalities [abstract] Neurology 1973;23:408 26 Greenberg DA, Durner M, Keddache M, et al Reproducibility and complications in gene searches: Linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy Am J Hum Genet 2000;66:508 516 27 Bryne E, Dennet X, Trounce I Mitochondrial myoneuropathy with respiratory failure and myoclonic epilepsy J Neurol Sci 1985;71:273 281 28 Larsson N-G, Tulinius MH, Holme E, Oldfors A Pathologenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas Muscle Nerve 1995;(Suppl 3): S102 S106 29 Munoz-Malaga A, Bautista J, Salazar JA, et al Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation A lipid storage myopathy Muscle Nerve 2000;23: 538 542 30 Mizusawa H, Watanabe M, Kanazawa I, et al Familial mitochondrial myopathy associated with peripheral neuropathy: Partial de ciencies of complex I and complex IV J Neurol Sci 1988;86:171 184 31 Pezeshkpour G, Krarup C, Buchthal F, et al Peripheral neuropathy in mitochondrial disease J Neurol Sci 1987; 77:285 304 32 Hammans SR, Sweeny MG, Brockington M, et al The mitochondrial DNA transfer RNALys A G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red bres (MERRF) Relationship of the clinical phenotype to proportion of mutant mitochondrial DNA Brain 1993; 116:617 632 33 Shoffner JM, Lott MT, Lezza AMS, Seibel P, Ballinger SW, Wallace DC Myoclonic epilepsy and ragged-red ber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation Cell 1990;61:931 937 34 Yoneda M, Miyatake T, Attardi G Heteroplasmic mitochondrial tRNALys mutation and its complementation in MERRF patient-derived mitochondrial transformants Muscle Nerve 1995;(Suppl 3):S95 S101 35 Tarnopolsky M, Martin J Creatine monohydrate increases strength in patients with neuromuscucular disase Neurology 1999;52:854 857 36 Tarnopolsky M, Roy BD, MacDonald JR A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies Muscle Nerve 1997;20:1502 1509 37 Feit H, Kirkpatrick J, VanWoert MH, Pandian G Myoclonus, ataxia, and hypoventilation: Response to L-5hydroxytrptophan Neurology 1983;33:109 112 38 Ciafaloni E, Ricci E, Shanske S, et al MELAS Clinical features, biochemistry, and molecular genetics Ann Neurol 1992;31:391 398
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6 Jeppesen TD, Schwartz M, Olsen DB, Vissing J Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy Ann Neurol 2003:54(1):86 92 7 Taivassalo T, Jensen TD, Kennaway N, DiMauro S, Vissing J, Haller RG The spectrum of exercise tolerance in mitochondrial myopathies: A study of 40 patients Brain 2003;126:413 423 8 Jeppesen TD, Olsen D, Vissing J Cycle ergometry is not a sensitive diagnostic test for mitochondrial myopathy J Neurol 2003;250(3):293 299 9 Jensen TD, Kazemi-Esfarjani P, Skomorowska E, Vissing J A forearm exercise screening test for mitochondrial myopathy Neurology 2002;58(10):1533 1538 10 Taivassalo T, Abbott A, Wyrick P, Haller RG Venous oxygen levels during aerobic forearm exercise: An index of impaired oxidative metabolism in mitochondrial myopathy Ann Neurol 2002;51(1):38 44 11 Olsen DB, Langkilde AR, Orngreen MC, Rostrup E, Schwartz M, Vissing J Muscle structural changes in mitochondrial myopathy relate to genotype J Neurol 2003; 250(11):1328 1334 12 Laforet P, Wary C, Duteil S, et al Rev Neurol 2003;159(1): 56 67 13 Moller HE, Wiedermann D, Kurlemann G, Hilbich T, Schuierer G Application of NMR spectroscopy to monitoring MELAS treatment: A case report Muscle Nerve 2002; 25(4):593 600 14 Bendahan D, Mattei JP, Kozak-Ribbens G, Cozzone PJ Non invasive investigation of muscle diseases using 31P magnetic resonance spectroscopy: Potential in clinical applications Rev Neurol 2002;158(5 Pt 1):527 540 15 Tarnopolsky MA, Simon DK, Roy BD, et al Attenuation of free radical production and paracrystalline inclusions by creatine supplementation in a patient with a novel cytochrome b mutation Muscle Nerve 2004;29: 537 547 16 Blumenthal DT, Shanske S, Schochet SS, et al Myoclonus epilepsy with ragged red bers and multiple mtDNA deletions Neurology 1998;50:524 525 17 Fang W, Huang C-C, Chu N-S, et al Myoclonic epilepsy with ragged-red bers (MERRF) syndrome: Report of a Chinese family with mitochondrial DNA point mutation in the tRNALys gene Muscle Nerve 1994;17:52 57 18 Fukuhara N Clinicopathological Features of MERRF Muscle Nerve 1995;(Suppl 3):S90 S94 19 Fukuhara N MERRF: A clinicopathological study Relationships between myoclonus epilepsy and mitochondrial myopathies Rev Neurol 1991;147:476 479 20 Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T Myoclonus epilepsy associated with ragged-red bers (mitochondrial abnormalities): Disease entity or a syndrome J Neurol Sci 1980;47:117 133 21 Lombes A, Mendell JR, Nakase H, et al Myoclonic epilepsy and ragged red bers with cytochrome oxidase de ciency: Neuropathology, biochemistry, and molecular genetics Ann Neurol 1989;26:20 33 22 Ozawa M, Goto Y-G, Sakuta R, Tanno Y, Tsuji S, Nonaka I The 8,344 mutation in mitochondrial DNA: A comparison between the proportion of mutant DNA and clinical pathologic ndings Neuromuscul Disord 1995;5: 483 488
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CHAPTER 27 39 Crimmins D, Morris JGL, Walker GL, et al Mitochondrial encephalomyopathy: Variable clinical expression within a single kindred J Neurol Neurosurg Psychiatry 1993; 56:900 905 40 Goto YI Clinical features of MELAS and mitochondrial DNA mutations Muscle Nerve 1995;(Suppl 3): A107 S112 41 Goto Y, Horai S, Matsuoka T, et al Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): Correlative study of the clinical features and mitochondrial DNA mutation Neurology 1992; 42:545 550 42 Pavlakis SG, Phillips PC, DiMauro S, DeVivo DC, Rowland LP Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode: A distinctive clinical syndrome Ann Neurol 1984;16:481 488 43 Iizuka T, Sakai F, Kan S Suzuki N Slowly progressive spread of the stroke-like lesions in MELAS Neurology 2003;61(9):1238 1244 44 Servidei S Mitochondrial encephalomyopathies: Gene mutation Neuromuscul Disord 2000;10:10 17 45 Saitoh S, Momoi MY, Yamagata T, Mori Y, Imai M Effects of dochorpacetate in three patients with MELAS Neurology 1998;50:531 534 46 Kaufmann P, Engelstad K, Wei Y, et al Dichloroacetate causes toxic neuropathy in MELAS: A randomized, controlled clinical trial Neurology 2006;66(3):324 330 47 Komura K, Hobbiebrunken E, Wilichowski EK, Hanefeld FA Effectiveness of creatine monohydrate in mitochondrial encephalomyopathies Ped Neurol 2003;28(1): 53 58 48 Berenberg R, Pellock J, DiMauro S, et al Lumping or splitting Ophthalmoplegia-plus or Kearns-Sayre syndrome Ann Neurol 1977:1:37 54 49 DiMauro S, Bonilla E, Lombes A, Shanske S, Minneti C, Moraes CT Mitochondrial encephalomyopathies Neurol Clin 1990;8:483 506 50 Holt IJ, Harding AE, Cooper JM, et al Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA Ann Neurol 1989;26:699 708 51 Lafor t P, Lombes A, Eymard B, et al Chronic progressive e external ophthalmoplegia with ragged-red bers: Clinical, morphological, and genetic investigations in 43 patients Neuromuscul Disord 1995;5:399 413 52 Moraes CT, DiMauro S, Zeviani M, et al Mitochondrial deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome N Engl J Med 1989;320:1293 1299 53 Rowland LP Progressive external ophthalmoplegia and ocular myopathies In Rowland LP, DiMauro S (eds) Handbook of Clinical Neurology, Vol 18(62) Myopathies Amsterdam: Elsevier Science Publishers BV, 1992, pp 287 329 54 Zeviani M, Moraes CT, DiMauro S, et al Deletions of mitochondrial DNA in Kearns-Sayre syndrome Neurology 1988;38:1339 1346 55 Barohn RJ, Clanton T, Sahenk Z, Mendell JR Recurrent respiratory insuf ciency and depressed ventilatory drive complicating mitochondrial myopathies Neurology 1990; 40:103 106
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