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These are the long-awaited first mutations in the muscle glycogenin gene and the second example of "glycogenosis 0" in human muscle
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•• Moslemi A-R, Lindberg C, Nilsson J, et al.: Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. N Engl J Med 2010, 362:1203-1210. These are the long-awaited first mutations in the muscle glycogenin gene and the second example of "glycogenosis 0" in human muscle.
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Muscle glycogenosis due to phosphoglucomutase 1 deficiency
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This is a new glycolytic defect showing the "typical" syndrome of exercise intolerance, cramps, and recurrent myoglobinuria
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•• Stojkovic T, Vissing J, Petit F, et al.: Muscle glycogenosis due to phosphoglucomutase 1 deficiency. N Engl J Med 2009, 361:425- 427. This is a new glycolytic defect showing the "typical" syndrome of exercise intolerance, cramps, and recurrent myoglobinuria.
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Stojkovic, T.1
Vissing, J.2
Petit, F.3
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Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease
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This is an interesting genotype-phenotype association documenting that even a very small amount of residual enzyme activity ameliorates the clinical presentation
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Vissing, J.1
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Haller, R.G.4
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11
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77950963839
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A randomized study of alglucosidase alfa in late-onset Pompe's disease
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This is the first (but probably not the last) multicentric study of enzyme replacement therapy in glycogenosis type II
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Van Der Ploeg, A.T.1
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13
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15
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65549107903
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Ramachandran N, Girard J-M, Turnbull J, Minassian B: The autosomal recessively inherited progressive myoclonus epilepsies and their genes
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• Ramachandran N, Girard J-M, Turnbull J, Minassian B: The autosomal recessively inherited progressive myoclonus epilepsies and their genes. Epilepsia 2009, 50(Suppl 5):29-36. This is an excellent critical review of Lafora's disease and other progressive myoclonic epilepsies.
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Epilepsia
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16
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62849112102
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Clinical and genetic analysis of lipid storage myopathies
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This is an excellent systematic analysis of a large cohort of patients with LSM and a critical review of the subject
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• Ohkuma A, Noguchi S, Sugie H, et al.: Clinical and genetic analysis of lipid storage myopathies. Muscle Nerve 2009, 39:333-342. This is an excellent systematic analysis of a large cohort of patients with LSM and a critical review of the subject.
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Ohkuma, A.1
Noguchi, S.2
Sugie, H.3
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17
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75649118189
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Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects
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El-Hattab, A.W.1
Li, F.-Y.2
Shen, J.3
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18
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Clinical and genetic characterization of Chanarin-Dorfman syndrome
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This is an excellent review of Chanarin-Dorfman syndrome
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• Bruno C, Bertini E, Di Rocco M, et al.: Clinical and genetic characterization of Chanarin-Dorfman syndrome. Biochem Biophys Res Comm 2008, 369:1125-1128. This is an excellent review of Chanarin-Dorfman syndrome.
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Bruno, C.1
Bertini, E.2
Di Rocco, M.3
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19
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77953120100
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Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene
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This article discussed an interesting presymptomatic patient with an unusual mutation and a problematic disconnect between muscle biopsy and normal strength
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•• Akman HO, Davidzon G, Tanji K, et al.: Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. Neuromuscul Disord 2010, 20:397-402. This article discussed an interesting presymptomatic patient with an unusual mutation and a problematic disconnect between muscle biopsy and normal strength.
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Neuromuscul Disord
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Akman, H.O.1
Davidzon, G.2
Tanji, K.3
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20
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34248171499
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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electrontransferring- flavoprotein dehydrogenase (ETFDH) gene
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Gempel, K.1
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21
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ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
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Liang W-C, Ohkuma A, Hayashi YK, et al.: ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord 2009, 19:212-216.
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Liang, W.-C.1
Ohkuma, A.2
Hayashi, Y.K.3
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22
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60849099038
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Bezafibrate for an inborn mitochondrial beta-oxidation defect
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This article discusses a convincing and promising therapeutic approach to an inborn error of metabolism
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• Bonnefont J-P, Bastin J, Behin A, Djouadi F: Bezafibrate for an inborn mitochondrial beta-oxidation defect. N Engl J Med 2009, 360:838-840. This article discusses a convincing and promising therapeutic approach to an inborn error of metabolism.
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N Engl J Med
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Bonnefont, J.-P.1
Bastin, J.2
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23
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50549093513
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Carnitine palmitoyltransferase II deficiency: Successful anaplerotic diet therapy
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Roe, C.R.1
Yang, B.-Z.2
Brunengraber, H.3
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24
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39049156470
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Prevalence of mitochondrial DNA disease in adults
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Ann Neurol
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Schaefer McFarland, A.M.R.1
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25
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48349097445
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Pathogenic mitochondrial DNA mutations are common in the general population
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This article presented astonishing results of a simple but long overdue survey of healthy newborns showing an unexpectedly high prevalence of mtDNA pathogenic mutations
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•• Elliott HR, Samuels DC, Eden JA, et al.: Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 2008, 83:254-260. This article presented astonishing results of a simple but long overdue survey of healthy newborns showing an unexpectedly high prevalence of mtDNA pathogenic mutations.
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Am J Hum Genet
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Elliott, H.R.1
Samuels, D.C.2
Eden, J.A.3
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26
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58449106056
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Protean phenotypic features of the A3243G mitochondrial DNA mutation
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This study provided interesting documentation of the clinical spectrum of the common MELAS mutation in a large cohort of mutation carriers
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• Kaufmann P, Engelstad K, Wei Y, et al.: Protean phenotypic features of the A3243G mitochondrial DNA mutation. Arch Neurol 2009, 66:85-91. This study provided interesting documentation of the clinical spectrum of the common MELAS mutation in a large cohort of mutation carriers.
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Arch Neurol
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Kaufmann, P.1
Engelstad, K.2
Wei, Y.3
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27
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70449109172
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The m.3243AG mtDNA mutation is pathogenic in an in vitro model of the human blood brain barrier
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This article presented elegant in vitro modeling of the human BBB and a promising tool for studies of pathogenesis and therapeutic strategies
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• Davidson MM, Walker WF, Hernandez-Rosa E: The m.3243A>G mtDNA mutation is pathogenic in an in vitro model of the human blood brain barrier. Mitochondrion 2009, 9:463-470. This article presented elegant in vitro modeling of the human BBB and a promising tool for studies of pathogenesis and therapeutic strategies.
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Mitochondrion
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Davidson, M.M.1
Walker, W.F.2
Hernandez-Rosa, E.3
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28
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70350697393
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Molecular basis of infantile reversible cytochrome c oxidase deficiency
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This was a fascinating example of the complex interaction between the nuclear and mitochondrial genomes
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•• Horvath R, Kemp JP, Tuppen HAL, et al.: Molecular basis of infantile reversible cytochrome c oxidase deficiency. Brain 2009, 132:3165-3174. This was a fascinating example of the complex interaction between the nuclear and mitochondrial genomes.
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(2009)
Brain
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Horvath, R.1
Kemp, J.P.2
Hal, T.3
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29
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77953229314
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Novel mutations in the NDUFS1 gene cause low residual activities in human complex i deficiencies
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Hoefs SJG, Skjeldal OH, Rodenburg RJ, et al.: Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies. Mol Gen Metab 2010, 100:251-256.
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Sjg, H.1
Skjeldal, O.H.2
Rodenburg, R.J.3
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30
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41149121580
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ADSK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency
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Lagier-Tourenne C, Tazir M, Lopez LC, et al.: ADSK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet 2008, 82:661-672.
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Lagier-Tourenne, C.1
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Lopez, L.C.3
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31
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41149134880
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CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
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Mollet J, Delahodde A, Serre V, et al.: CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 2008, 82:623-630.
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Mollet, J.1
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Serre, V.3
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32
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65549087610
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A nonsense mutation in COQ9 causes autosomal recessive neonatal-onset primary coenzyme Q10 deficiency: A potentially treatable form of mitochondrial disease
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Duncan AJ, Bitner-Glindziez M, Meunier B, et al.: A nonsense mutation in COQ9 causes autosomal recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet 2009, 84:558-566.
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Am J Hum Genet
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Duncan, A.J.1
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Meunier, B.3
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33
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74249105071
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Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy
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This was an interesting collaborative study documenting secondary CoQ10 deficiency in patients with primary mitochondrial myopathy
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• Sacconi S, Trevisson E, Salviati L, et al.: Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. Neuromuscul Disord 2010, 20:44-48. This was an interesting collaborative study documenting secondary CoQ10 deficiency in patients with primary mitochondrial myopathy.
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Neuromuscul Disord
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Sacconi, S.1
Trevisson, E.2
Salviati, L.3
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34
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Coenzyme Q10 distribution is altered in patients with fibromyalgia
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Cordero MD, Moreno-Fernandez AM, deMiguel M, et al.: Coenzyme Q10 distribution is altered in patients with fibromyalgia. Clin Biochem 2009, 42:732-735.
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Cordero, M.D.1
Moreno-Fernandez, A.M.2
De Miguel, M.3
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35
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45449121006
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Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase
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This study was a historical "first" showing that mutations affecting COX subunits directly do occur
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•• Massa V, Fernandez-Vizarra E, Alshahwan S, et al.: Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet 2008, 82:1281-1289. This study was a historical "first" showing that mutations affecting COX subunits directly do occur.
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Am J Hum Genet
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, pp. 1281-1289
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Massa, V.1
Fernandez-Vizarra, E.2
Alshahwan, S.3
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36
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53049098744
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Mutation of C20orf7 disrupts complex i assembly and causes lethal neonatal mitochondrial disease
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Sugiana C, Pagliarini DJ, McKenzie M, et al.: Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am J Hum Genet 2008, 83:468-478.
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Am J Hum Genet
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Sugiana, C.1
Pagliarini, D.J.2
McKenzie, M.3
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37
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38749144436
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C6ORF66 is an assembly factor of mitochondrial complex i
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Saada A, Edvardson S, Rapaport M, et al.: C6ORF66 is an assembly factor of mitochondrial complex I. Am J Hum Genet 2008, 82:32-38.
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Am J Hum Genet
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Saada, A.1
Edvardson, S.2
Rapaport, M.3
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38
-
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67649833762
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Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome
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This was the first demonstration that "indirect hits" can affect isolated subunits of RC complexes
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•• Weraarpachai W, Antonicka H, Sasarman F, 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, 41:833-837. This was the first demonstration that "indirect hits" can affect isolated subunits of RC complexes.
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(2009)
Nat Genet
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, pp. 833-837
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Weraarpachai, W.1
Antonicka, H.2
Sasarman, F.3
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39
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55049120285
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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalomyopathy
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Cizkova A, Stranecky V, Mayr JA, et al.: TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalomyopathy. Nat Genet 2009, 40:1288-1290.
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Nat Genet
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Cizkova, A.1
Stranecky, V.2
Mayr, J.A.3
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40
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77950244975
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Multi-system neurological disease is common in patients with OPA1 mutations
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This was an important demonstration of the protean phenotypic expression of OPA1 mutations
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•• Yu-Wai-Man P, Griffiths PG, Gorman GS, et al.: Multi-system neurological disease is common in patients with OPA1 mutations. Brain 2010, 133:771-786. This was an important demonstration of the protean phenotypic expression of OPA1 mutations.
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(2010)
Brain
, vol.133
, pp. 771-786
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Yu-Wai-Man, P.1
Griffiths, P.G.2
Gorman, G.S.3
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41
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77952472152
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Mitochondrial translation and beyond: Processes implicated in combined oxidative phosphorylation deficiencies
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Epub ahead of print. This is a comprehensive and comprehensible review of a complex subject
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• Smits P, Smeitink JAM, van den Heuvel B: Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies. J Biomed Biotechnol 2010 Apr 13 (Epub ahead of print). This is a comprehensive and comprehensible review of a complex subject.
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(2010)
J Biomed Biotechnol
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Smits, P.1
Jam, S.2
Van Den Heuvel, B.3
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42
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77951096150
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Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases
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This is a lucid review of mitochondrial dynamics gone awry
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• Chen H, Chan DC: Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases. Hum Mol Genet 2009, 18:R169-R176. This is a lucid review of mitochondrial dynamics gone awry.
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(2009)
Hum Mol Genet
, vol.18
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Chen, H.1
Chan, D.C.2
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43
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Mitochondria and ageing
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Muller-Hocker J: Mitochondria and ageing. Brain Pathol 1992, 2:149-158.
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Brain Pathol
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Muller-Hocker, J.1
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44
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50049118173
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Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype
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This is an elegant demonstration of how enhancing mitochondrial biogenesis can benefit an RC defect
-
•• Wenz T, Diaz F, Spiegelman BM, Moraes CT: Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype. Cell Metab 2008, 8:249-255. This is an elegant demonstration of how enhancing mitochondrial biogenesis can benefit an RC defect.
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(2008)
Cell Metab
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, pp. 249-255
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Wenz, T.1
Diaz, F.2
Spiegelman, B.M.3
Moraes, C.T.4
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45
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73949099327
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Increased muscle PGC- 1alpha expression protects from sarcopenia and metabolic disease during aging
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Wenz T, Rossi S, Rotundo RL, et al.: Increased muscle PGC- 1alpha expression protects from sarcopenia and metabolic disease during aging. Proc Natl Acad Sci U S A 2009, 106:20405-20410.
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Wenz, T.1
Rossi, S.2
Rotundo, R.L.3
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46
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66349120223
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Endurance exercise is protective for mice with mitochondrial myopathy
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This article explains why aerobic exercise is beneficial in mitochondrial myopathies
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• Wenz T, Diaz F, Hernandez D, Moraes CT: Endurance exercise is protective for mice with mitochondrial myopathy. J Appl Physiol 2009, 106:1712-1719. This article explains why aerobic exercise is beneficial in mitochondrial myopathies.
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J Appl Physiol
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Wenz, T.1
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47
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Calorie restriction increases muscle mitochondrial biogenesis in healthy humans
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Civitarese AE, Carling S, Heilbronn LK, et al.: Calorie restriction increases muscle mitochondrial biogenesis in healthy humans. PLoS Med 2007, 4:e76.
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48
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64949160375
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Ventricular cerebrospinal fluid lactate is increased in chronic fatigue syndrome compared with generalized anxiety disorder: An in vivo 3.0 T 1H MRS imaging study
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Mathew SS, Mao X, Keegan KA, et al.: Ventricular cerebrospinal fluid lactate is increased in chronic fatigue syndrome compared with generalized anxiety disorder: an in vivo 3.0 T 1H MRS imaging study. NMR Biomed 2009; 22:251-258.
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Mathew, S.S.1
Mao, X.2
Keegan, K.A.3
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