Abstract
Mitochondriopathies constitute a heterogeneous clinical group of disorders (DiMauro et al., 1985; Morgan Hughes, 1986). Their diagnosis is provided by clinical criteria together with mitochondrial DNA (mtDNA) studies and enzymic studies in muscle.
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References
Angelini, C. (1987) Metabolie myopathies. Curr. Neurol. 7, 31–49.
Angelini, C., Bresolin, N., Pegolo, G. et al (1986) Childhood encephalo-myopathy with cytochrome C oxidase deficiency, ataxia, muscle wasting and mental impairment. Neurology, 36, 1048–62.
Bender, A.N. and Engel, W.K. (1976) Light-cored dense particles in mitochondria of a patient with skeletal muscle and myocardial disease. J. Neuropathol., 35, 46–52.
Berenberg, R.A., Pellock, J.M., DiMauro, S. et al (1977) Lumping or splitting? ′Ophthalmoplegia-plus′ or Kearns-Sayre syndrome? Ann. Neurol., 1, 37–54.
Chapoy, P.R., Angelini, C, Brown, W.J. et al (1980) Systemic carnitine deficiency: a treatable inherited lipid storage disease presenting as Reye′s syndrome. N. Engl. J. Med., 303, 1389–94.
Charles, R., Holt, S., Kay, J.M. et al (1981) Myocardial ultrastructure and the development of atrioventricular block in Kearns-Sayre syndrome. Circulation, 63, 214–19.
Cederbaum, S., Blass, J.P., Minkoff, N. et al (1976) Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency. Pediatr. Res., 10, 713–20.
DiMauro, S. (1979) in Handbook of Clinical Neurology: Diseases of Muscle., Vol. 41 (eds P.J. Vinken and G.W. Bruyn), North-Holland, Amsterdam, pp. 175–234.
DiMauro, S., Bonilla, E., Zeviani, M. et al (1985) Mitochondrial myopathies. Ann. Neurol., 17, 521–38.
Jerusalem, F., Angelini, C. and Engel, A.G. (1973) Mitochondria lipid glycogen (MLG) disease of muscle. Arch. Neurol., 29, 162–9.
Johnston, S.A., Anziano, P.Q., Shark, K., Sanford, J.C. and Butow, R.A. (1988) Mitochondrial transformation in yeast by bombardment with microprojectiles. Nature, 240, 1538–41.
Luft, R., Ikkos, D., Palmieri, G. et al (1962) A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical biochemical and morphological study. J. Clin. Invest., 41, 1776–804.
Moraes, C.T., Di Mauro, S., Zeviani, M. et al (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N. Engl. J. Med., 320, 1293–9.
Morgan Hughes, J.A. (1982) in Advances in Clinical Neurology, Vol. 3 (eds W.B. Matthews and G.H. Glaser), Churchill Livingstone, Edinburgh, pp. 1–46.
Morgan Hughes, J.A. (1986) in The Mitochondrial Myopathies in Myology: Basic and Clinical (eds A.G. Engel and B.Q. Banker), McGraw Hill, Toronto, pp. 1709–13.
Sengers, R.C.A., Stadhouders, A.M., Jaspar, H.H.J. et al (1976) Cardiomyopathy and short stature associated with mitochondrial and/or lipid storage myopathy of skeletal muscle. Neuropediatrics, 7, 196–208.
Shy, G.M., Gonatas, N.K. and Perez M. (1966) Two childhood myopathies with abnormal mitochondria: 1 megaconial myopathy, II pleoconial myopathy. Brain, 89, 133–58.
Spiro, A.J., Moore, C.L., Prineas, J.W. et al (1970) A cytochrome related inherited disorder of central nervous system and muscle. Arch. Neurol. 23, 108–12.
Treem, W.R., Stanley, C.A., Finegold, D.N. et al (1988) Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle and fibroblasts. N. Engl. J. Med., 319, 1331–6.
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© 1991 Springer Science+Business Media Dordrecht
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Angelini, C., Martinuzzi, A., Fanin, M., Rosa, M., Carrozzo, R., Vergani, L. (1991). Various clinical presentation of mitochondriopathies: clinical and therapeutic considerations. In: Gorrod, J.W., Albano, O., Ferrari, E., Papa, S. (eds) Molecular Basis of Neurological Disorders and Their Treatment. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-3114-8_24
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DOI: https://doi.org/10.1007/978-94-011-3114-8_24
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