-
1
-
-
15944396616
-
Mitochondrial encephalomyopathies: An update
-
DiMauro S, Hirano M. Mitochondrial encephalomyopathies: an update. Neuromusc Disord 2005; 15:276-286. This is probably the most up-to-date review of the multiple genetic causes of mitochondrial disorders, with special emphasis on those affecting the neuromuscular system.
-
(2005)
Neuromusc Disord
, vol.15
, pp. 276-286
-
-
DiMauro, S.1
Hirano, M.2
-
2
-
-
1542328875
-
The diagnosis of mitochondrial muscle disease
-
Taylor RW, Schaefer AM, Barron MJ, et al. The diagnosis of mitochondrial muscle disease. Neuromusc Disord 2004; 14:237-245. This paper provides a practical 'clinician friendly' approach to the accurate diagnosis of mitochondrial myopathies, which sequentially considers symptoms and signs, laboratory tests, muscle morphology and biochemistry, and a rational approach to molecular studies.
-
(2004)
Neuromusc Disord
, vol.14
, pp. 237-245
-
-
Taylor, R.W.1
Schaefer, A.M.2
Barron, M.J.3
-
3
-
-
0033619147
-
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
-
Andreu AL, Hanna MG, Reichmann H, et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 1999; 341:1037-1044.
-
(1999)
N Engl J Med
, vol.341
, pp. 1037-1044
-
-
Andreu, A.L.1
Hanna, M.G.2
Reichmann, H.3
-
4
-
-
12144289616
-
Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation
-
Glu gene of mtDNA, the authors draw attention to the fact that the mutation had attained homoplasmy in several family members and to the need to develop new biochemical tests of pathogenicity for homoplasmic mutations.
-
(2004)
Ann Neurol
, vol.55
, pp. 478-484
-
-
McFarland, R.1
Schaefer, A.M.2
Gardner, A.3
-
5
-
-
0038238874
-
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited cardiomyopathy
-
Taylor RW, Giordano C, Davidson MM, et al. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited cardiomyopathy. J Am Coll Cardiol 2003;41:1786-1796.
-
(2003)
J Am Coll Cardiol
, vol.41
, pp. 1786-1796
-
-
Taylor, R.W.1
Giordano, C.2
Davidson, M.M.3
-
6
-
-
0036478952
-
Multiple neonatal deaths due to homoplasmic mitochondrial DNA mutation
-
McFarland R, Clark KM, Morris AAM, et al. Multiple neonatal deaths due to homoplasmic mitochondrial DNA mutation. Nature Genet 2002; 30:145-146.
-
(2002)
Nature Genet
, vol.30
, pp. 145-146
-
-
Mcfarland, R.1
Clark, K.M.2
Morris, A.A.M.3
-
7
-
-
10644230012
-
Congenital or late-onset myopathy with the T14709C mtDNA mutation
-
Glu gene of mtDNA (also see McFarland et al. [4**]) as a cause of myopathy and stresses the frequent, if unexplained, association of the myopathy with diabetes mellitus.
-
(2005)
J Neurol Sci
, vol.228
, pp. 93-97
-
-
Mancuso, M.1
Ferraris, S.2
Nishigaki, Y.3
-
8
-
-
9744242736
-
Mitochondrial medicine
-
DiMauro S. Mitochondrial medicine. Biochim Biophys Acta 2004; 1659:107-114.
-
(2004)
Biochim Biophys Acta
, vol.1659
, pp. 107-114
-
-
Dimauro, S.1
-
9
-
-
20344366079
-
Mitochondrial DNA and disease
-
DiMauro S, Davidzon G. Mitochondrial DNA and disease. Ann Med 2005; 37:222-232. This is a comprehensive review of the role of mtDNA as a Pandora's box of human diseases.
-
(2005)
Ann Med
, vol.37
, pp. 222-232
-
-
DiMauro, S.1
Davidzon, G.2
-
10
-
-
19444362935
-
Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase gene
-
Horváth R, Lochmuller H, Hoeltzenbein M, et al. Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase gene [Letter]. J Med Genet 2004; 41:e75. This paper describes a most unusual 'benign' presentation of COX deficiency in a young man with initially severe congenital myopathy.
-
(2004)
J Med Genet
, vol.41
-
-
Horváth, R.1
Lochmuller, H.2
Hoeltzenbein, M.3
-
11
-
-
1642382090
-
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency
-
Ugalde C, Janssen RJRJ, van den Heuvel LP, et al. Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. Hum Mol Gen 2004; 13:659-667. This is a critical and comprehensive overview of the structure and function of the gigantic complex I of the respiratory chain, and of the numerous mutations described in several subunits and associated with severe infantile encephalomyopathies.
-
(2004)
Hum Mol Gen
, vol.13
, pp. 659-667
-
-
Ugalde, C.1
Janssen, R.J.R.J.2
Van Den Heuvel, L.P.3
-
12
-
-
8844244960
-
NUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency
-
Kirby DM, Salemi R, Sugiana C, et al. NUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest 2004; 114:837-845. This elegant study complements and extends data presented in the review by Ugalde et al. [11*].
-
(2004)
J Clin Invest
, vol.114
, pp. 837-845
-
-
Kirby, D.M.1
Salemi, R.2
Sugiana, C.3
-
13
-
-
0141610413
-
Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
-
Ogasahara S, Engel AG, Frens D, Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Nat Acad Sci USA 1989; 86:2379-2382.
-
(1989)
Proc Nat Acad Sci USA
, vol.86
, pp. 2379-2382
-
-
Ogasahara, S.1
Engel, A.G.2
Frens, D.3
Mack, D.4
-
14
-
-
0030975555
-
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency
-
Sobreira C, Hirano M, Shanske S, et al. Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology 1997; 48:1238-1243.
-
(1997)
Neurology
, vol.48
, pp. 1238-1243
-
-
Sobreira, C.1
Hirano, M.2
Shanske, S.3
-
15
-
-
0035859689
-
Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency
-
Di Giovanni S, Mirabelle M, Spinazzola A, et al. Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. Neurology 2001; 57:515-518.
-
(2001)
Neurology
, vol.57
, pp. 515-518
-
-
Di Giovanni, S.1
Mirabelle, M.2
Spinazzola, A.3
-
16
-
-
0032539874
-
A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency
-
Boitier E, Degoul F, Desguerre I, et al. A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency. J Neurol Sci 1998; 156:41-46.
-
(1998)
J Neurol Sci
, vol.156
, pp. 41-46
-
-
Boitier, E.1
Degoul, F.2
Desguerre, I.3
-
19
-
-
0034730011
-
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
-
Rötig A, Appelkvist E-L, Geromel V, et al. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet 2000; 356:391-395.
-
(2000)
Lancet
, vol.356
, pp. 391-395
-
-
Rötig, A.1
Appelkvist, E.-L.2
Geromel, V.3
-
21
-
-
23844469463
-
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition
-
in press
-
Salviati L, Sacconi S, Murer L, et al. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. Neurology 2005 (in press).
-
(2005)
Neurology
-
-
Salviati, L.1
Sacconi, S.2
Murer, L.3
-
23
-
-
18044392731
-
Drug-induced myopathies. An overview of the possible mechanisms
-
Owczarek J, Jasinska M, Orszulak-Michalak D. Drug-induced myopathies. An overview of the possible mechanisms. Pharmacol Rep 2005; 57:23-34.
-
(2005)
Pharmacol Rep
, vol.57
, pp. 23-34
-
-
Owczarek, J.1
Jasinska, M.2
Orszulak-Michalak, D.3
-
24
-
-
26944451510
-
Muscle coenzyme Q10 in statin-related myopathy
-
in press
-
Lamperti C, Naini AB, Lucchini V, et al. Muscle coenzyme Q10 in statin-related myopathy. Arch Neurol 2005 (in press).
-
(2005)
Arch Neurol
-
-
Lamperti, C.1
Naini, A.B.2
Lucchini, V.3
-
25
-
-
23644437789
-
mtDNA maintenance and stability genes: MNGIE and mtDNA depletion syndromes
-
Koehler CM, Bauer MF, editors. Berlin, German: Springer Verlag
-
Hirano M, Marti RA, Vila MR, Nishigaki Y. mtDNA maintenance and stability genes: MNGIE and mtDNA depletion syndromes. In: Koehler CM, Bauer MF, editors. Mitochondrial function and biogenesis. Berlin, German: Springer Verlag; 2004. pp. 177-200.
-
(2004)
Mitochondrial Function and Biogenesis
, pp. 177-200
-
-
Hirano, M.1
Marti, R.A.2
Vila, M.R.3
Nishigaki, Y.4
-
26
-
-
0037461342
-
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
-
Agostino A, Valletta L, Chinnery PF, et al. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology 2003; 60:1354-1356.
-
(2003)
Neurology
, vol.60
, pp. 1354-1356
-
-
Agostino, A.1
Valletta, L.2
Chinnery, P.F.3
-
27
-
-
0036327184
-
Mutations of mitochondrial DNA polymerase gA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
-
Lamantea E, Tiranti V, Bordoni A, et al. Mutations of mitochondrial DNA polymerase gA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 2002; 52:211-219.
-
(2002)
Ann Neurol
, vol.52
, pp. 211-219
-
-
Lamantea, E.1
Tiranti, V.2
Bordoni, A.3
-
28
-
-
2142705756
-
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
-
Naviaux RK, Nguyen KV. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 2004; 55:706-712. This is the first documentation of POLG mutations in children with the hepatocerebral syndrome known as Alpers syndrome. It clearly shows that mutations in POLG can cause mtDNA depletion in addition to multiple deletions.
-
(2004)
Ann Neurol
, vol.55
, pp. 706-712
-
-
Naviaux, R.K.1
Nguyen, K.V.2
-
29
-
-
20144388894
-
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gA
-
Ferrari G, Lamantea E, Donati A, et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gA. Brain 2005; 128:723-731. This paper and that by Davidzon et al. [30*] confirm and extend the findings of Naviaux and Nguyen [28**] and firmly establish mutations in POLG as the major cause of Alpers syndrome.
-
(2005)
Brain
, vol.128
, pp. 723-731
-
-
Ferrari, G.1
Lamantea, E.2
Donati, A.3
-
30
-
-
20444370205
-
POLG mutations and Alpers syndrome
-
Davidzon G, Mancuso M, Ferraris S, et al. POLG mutations and Alpers syndrome. Ann Neurol 2005; 57:921-924. See Ref. [29*].
-
(2005)
Ann Neurol
, vol.57
, pp. 921-924
-
-
Davidzon, G.1
Mancuso, M.2
Ferraris, S.3
-
31
-
-
18944390365
-
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
-
Elpeleg O, Miller C, Hershkovitz E, et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 2005; 76:1081-1086. This elegant paper documents a new molecular cause of mtDNA depletion, namely mutations in the gene SUCLA2m, which encodes a subunit of the mitochondrial matrix enzyme succinyl coenzyme A synthase, in children with a complex syndrome dominated by muscle involvement.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 1081-1086
-
-
Elpeleg, O.1
Miller, C.2
Hershkovitz, E.3
-
32
-
-
0037159255
-
Mitochondrial DNA depletion. Mutations in thymidine kinase gene with myopathy and SMA
-
Mancuso M, Salviati L, Sacconi S, et al. Mitochondrial DNA depletion. Mutations in thymidine kinase gene with myopathy and SMA. Neurology 2002;59:1197-1202.
-
(2002)
Neurology
, vol.59
, pp. 1197-1202
-
-
Mancuso, M.1
Salviati, L.2
Sacconi, S.3
-
33
-
-
0034694802
-
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome
-
Vreken P, Valianpour F, Nijtmans LG, et al. Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. Biochem Biophys Res Commun 2000; 279:378-382.
-
(2000)
Biochem Biophys Res Commun
, vol.279
, pp. 378-382
-
-
Vreken, P.1
Valianpour, F.2
Nijtmans, L.G.3
-
34
-
-
0036228186
-
Deficiency of tetralinoleoylcardiolipin in Barth syndrome
-
Schlame M, Towbin JA, Heerdt PM, et al. Deficiency of tetralinoleoylcardiolipin in Barth syndrome. Ann Neurol 2002; 51:634-637.
-
(2002)
Ann Neurol
, vol.51
, pp. 634-637
-
-
Schlame, M.1
Towbin, J.A.2
Heerdt, P.M.3
-
35
-
-
0344010615
-
Phospholipid abnormalities in children with Barth syndrome
-
Schlame M, Kelley RI, Feigenbaum A, et al. Phospholipid abnormalities in children with Barth syndrome. J Am Coll Cardiol 2003; 42:1994-1999.
-
(2003)
J Am Coll Cardiol
, vol.42
, pp. 1994-1999
-
-
Schlame, M.1
Kelley, R.I.2
Feigenbaum, A.3
|