Indexed keywords
ARTICLE;
ATAXIA;
CASE REPORT;
CONGESTIVE CARDIOMYOPATHY;
DIFFERENTIAL DIAGNOSIS;
ELECTRON MICROSCOPY;
HUMAN;
MALE;
MITOCHONDRIAL MYOPATHY;
PRESCHOOL CHILD;
ATAXIA;
CARDIOMYOPATHY, DILATED;
CHILD, PRESCHOOL;
DIAGNOSIS, DIFFERENTIAL;
HUMANS;
MALE;
MICROSCOPY, ELECTRON;
MITOCHONDRIAL MYOPATHIES;
1
0032980279
Mitochondrial disorders : Clinical and genetic features
Simon DK, Johns DR. Mitochondrial disorders : Clinical and genetic features. Annu Rev Med 1999; 50 : 111-127.
(1999)
Annu Rev Med
, vol.50
, pp. 111-127
Simon, D.K.1
Johns, D.R.2
2
0028934528
Cardiac involvement in mitochondrial diseases and vice versa
Williams RS. Cardiac involvement in Mitochondrial Diseases and vice versa. Circulation 1995; 91 : 1266-1268.
(1995)
Circulation
, vol.91
, pp. 1266-1268
Williams, R.S.1
3
0030947524
Mitochondrial cardiomyopathy : Molecular and biochemical analysis
Marin-Garcia J, Goldenthal MJ. Mitochondrial Cardiomyopathy : Molecular and Biochemical analysis. Pediatr Cardiol 1997; 18 : 251-260.
(1997)
Pediatr Cardiol
, vol.18
, pp. 251-260
Marin-Garcia, J.1
Goldenthal, M.J.2
4
0042275147
Genetic basis of mitochondrial disease
Jameson JL, ed. Totowa NJ; Humana Press Inc
Johns DR. Genetic basis of mitochondrial disease. In Jameson JL, ed. Principles of Molecular Medicine, Totowa NJ; Humana Press Inc, 1998; 941-947.
(1998)
Principles of Molecular Medicine
, pp. 941-947
Johns, D.R.1
5
0031716075
Classification of mitochondrial diseases
Lopez-de Munain A. Classification of Mitochondrial diseases. Rev Neurol 1998; 26 (Suppl-1) : S9-14.
(1998)
Rev Neurol
, vol.26
, Issue.1 SUPPL.
Lopez-De Munain, A.1
6
85047679319
Cardiomyopathy and abnormal mitochondrial function
Marin-Garcia J, Goldenthal MJ. Cardiomyopathy and abnormal mitochondrial function. Cardiovasc Res 1994; 28 : 456-463.
(1994)
Cardiovasc Res
, vol.28
, pp. 456-463
Marin-Garcia, J.1
Goldenthal, M.J.2
7
0026624980
Diseases of the mitochondrial DNA
Wallace DC. Diseases of the mitochondrial DNA. Annu Rev Biochem 1992; 61 : 1175-1212.
(1992)
Annu Rev Biochem
, vol.61
, pp. 1175-1212
Wallace, D.C.1
8
0028918471
Cardiac involvement in mitochondrial diseases-A study on 17 patients with documented mitochondrial DNA defects
Anan R, Nakagawa M, Miyata M et al. Cardiac involvement in mitochondrial diseases-A study on 17 patients with documented mitochondrial DNA defects. Circulation 1995; 91 : 955-961.
(1995)
Circulation
, vol.91
, pp. 955-961
Anan, R.1
Nakagawa, M.2
Miyata, M.3
9
0025260002
Mitochondrial mutation in fatal infantile cardiomyopathy
Tanaka M, Ino H, Ohno K et al. Mitochondrial mutation in fatal infantile cardiomyopathy. Lancet 1990; 336 : 1452.
(1990)
Lancet
, vol.336
, pp. 1452
Tanaka, M.1
Ino, H.2
Ohno, K.3
10
0028012201
A new mt DNA mutation in the tRNA LEU(UUR) gene associated with maternally inherited cardiomyopathy
Silvestri G, Santorelli FM, Shanske S et al. A new mt DNA mutation in the tRNA LEU(UUR) gene associated with maternally inherited cardiomyopathy. Hum Mutat 1994; 3 : 37-43.
(1994)
Hum Mutat
, vol.3
, pp. 37-43
Silvestri, G.1
Santorelli, F.M.2
Shanske, S.3
11
0032417494
Progression of cardiac involvement in patients with Myotonic dystrophy, Becker's muscular dystrophy and mitochondrial myopathy during a 2 year follow-up
Stollberger C, Finsterer J, Kerler H, Mamoli B, Slany J. Progression of cardiac involvement in patients with Myotonic dystrophy, Becker's muscular dystrophy and Mitochondrial myopathy during a 2 year follow-up. Cardiology 1998; 90 : 173-179.
(1998)
Cardiology
, vol.90
, pp. 173-179
Stollberger, C.1
Finsterer, J.2
Kerler, H.3
Mamoli, B.4
Slany, J.5
12
0028037791
Oxidative phosphorylation diseases and mitochondrial DNA mutations : Diagnosis and treatment
Shoffner JM, Wallace DC. Oxidative phosphorylation diseases and mitochondrial DNA mutations : Diagnosis and treatment. Annu Rev Nutr 1994; 14 : 535-568.
(1994)
Annu Rev Nutr
, vol.14
, pp. 535-568
Shoffner, J.M.1
Wallace, D.C.2
13
0030926104
Reversal of a mitochondrial DNA defect in human skeletal muscle
Clark KM, Bindoff LA, Lightowlers RN et al. Reversal of a mitochondrial DNA defect in human skeletal muscle. Nat Genet 1997; 16 : 222-224.
(1997)
Nat Genet
, vol.16
, pp. 222-224
Clark, K.M.1
Bindoff, L.A.2
Lightowlers, R.N.3