DOI: 10.1177/0883073899014001051. Does the Patient Have a Mitochondrial Encephalomyopathy?

Does the Patient Have a Mitochondrial Encephalomyopathy?

10.1177/0883073899014001051

Crossref journal-article

SAGE Publications

Journal of Child Neurology (179)

Abstract

The ubiquitous nature of mitochondria, the dual genetic control of the respiratory chain, and the peculiar rules of mitochondrial genetics contribute to explain the extraordinary clinical heterogeneity of disorders associated with defects of oxidative phosphorylation (mitochondrial encephalomyopathies). To provide a practical approach to the diagnostic challenge posed by these conditions, we critically review the following criteria: (1) clinical presentation; (2) family history; (3) laboratory data; (4) neuroradiologic patterns; (5) standardized exercise testing; (6) muscle morphology; (7) muscle biochemistry; and (8) molecular genetic screening. Judicious sequential application of these tools should provide help in recognizing patients with mitochondrial disease and define the biochemical and molecular basis of the disorder for each patient. This knowledge is indispensable for accurate genetic counseling and prenatal diagnosis and is a prerequisite for the development of rational therapies, which are still woefully inadequate. (J Child Neurol 1999;14(Suppl 1):S23-S35).

Bibliography

DiMauro, S., Bonilla, E., & De Vivo, D. C. (1999). Does the Patient Have a Mitochondrial Encephalomyopathy? Journal of Child Neurology, 14(1_suppl), S23âS35.

Authors 3

Salvatore DiMauro (first)
Eduardo Bonilla (additional)
Darryl C. De Vivo (additional)

References 50 Referenced 48

DiMauro S., Bonilla E.: Mitochondrial encephalomyopathies, in Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL (eds): The Molecular and Genetic Basis of Neurological Disease, 2nd ed. Boston, Butterworth-Heinemann , 1997, pp 201-235.
DiDonato S.: Diseases associated with defects of beta-oxidation, in Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL (eds): The Molecular and Genetic Basis of Neurological Disease, 2nd ed. Boston, Butterworth-Heinemann , 1997, pp 939-956.
De Vivo DC, Hirano M., DiMauro S.: Mitochondrial disorders, in Vinken PJ, Bruyn GW (eds): Neurodystrophies and Neurolipidoses . Amsterdam, Elsevier, 1996, pp 389-446.
Schon EA: The mitochondrial genome, in Rosenberg RN , Prusiner SB, DiMauro S, Barchi RL (eds): The Molecular and Genetic Basis of Neurological Disease. Boston, Butterworth-Heinemann, 1997 , pp 189-200.
10.1177/107385849800400113
DiMauro S., Hirano M., Bonilla E., De Vivo DC: The mitochondrial disorders, in Berg BO (ed): Principles of Child Neurology. New York, McGraw-Hill, 1996, pp 1201-1232.
10.1002/ajmg.1320410308
10.1136/jnnp.63.1.16
10.1016/0887-8994(96)00118-X
10.1086/301716
10.1002/1531-8249(199906)45:6<787::AID-ANA13>3.0.CO;2-6
10.1038/ng1095-144
{'key': 'atypb13', 'first-page': '190', 'volume': '13', 'year': '1998', 'journal-title': 'Curr Opin Cardiol'} / Curr Opin Cardiol (1998)
10.1002/(SICI)1097-4598(199702)20:2<221::AID-MUS13>3.0.CO;2-5
10.1136/jmg.34.7.607
10.1002/ana.410310617
10.1016/S0022-3476(97)70323-8
10.1016/S0022-510X(99)00062-3
10.1002/humu.1380030107
10.1023/A:1022685929755
10.1172/JCI116913
10.1002/1531-8249(199906)45:6<820::AID-ANA22>3.0.CO;2-W
10.1006/mcpr.1996.0053
10.1212/WNL.51.5.1444
10.1002/1531-8249(199901)45:1<127::AID-ART20>3.0.CO;2-Y
10.1016/0960-8966(93)90040-Q / Neuromuscul Disord (1993)
10.1212/WNL.50.1.99
{'key': 'atypb28', 'first-page': '763', 'volume': '58', 'year': '1996', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet (1996)
10.1212/WNL.46.5.1329
10.1007/BF00688189
10.1212/WNL.44.4.721
10.1086/301979
10.1126/science.283.5402.689
Robinson BH: Lactic acidemia (disorders of pyruvate carboxylase, pyruvate dehydrogenase) , in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, vol 2, 7th ed. New York, McGraw Hill, 1995, pp 1479-1499.
De Vivo DC, DiMauro S.: Mitochondrial disease, in Swaiman KF (ed): Pediatric Neurology: Principles and Practice. St Louis, Mosby, 1994, pp 1335-1356.
{'volume-title': 'Abstract presented at the 7th Scientific Meeting of the International Society for Magnetic Resonance in Medicine', 'key': 'atypb36'} / Abstract presented at the 7th Scientific Meeting of the International Society for Magnetic Resonance in Medicine
10.1002/biof.5520070318
10.1002/ana.410300116
10.1212/WNL.13.11.919
10.1038/883
10.1086/302169
10.1002/1531-8249(199906)45:6<693::AID-ANA2>3.0.CO;2-#
10.1002/ana.410410219
DiMauro S., Hirano M., Bonilla E., et al: Cytochrome oxidase deficiency: Progress and problems, in Schapira AHV, DiMauro S (eds): Mitochondrial Disorders in Neurology. Oxford, Butterworth-Heinemann, 1994 , pp 91-115. (10.1016/B978-0-7506-0585-4.50010-1)
10.1128/MMBR.54.3.211-225.1990
10.1038/3804
10.1086/302150
10.1016/S0960-8966(98)00039-X
10.1073/pnas.95.11.6004
10.1016/S0092-8674(00)81203-9

Dates

Type	When
Created	8 years, 1 month ago (July 18, 2017, 8:33 a.m.)
Deposited	6 months ago (March 3, 2025, 11:34 p.m.)
Indexed	3 months, 2 weeks ago (May 20, 2025, 11:33 a.m.)
Issued	25 years, 10 months ago (Nov. 1, 1999)
Published	25 years, 10 months ago (Nov. 1, 1999)
Published Online	25 years, 10 months ago (Nov. 1, 1999)
Published Print	25 years, 10 months ago (Nov. 1, 1999)

Funders 0

None

BibTeX

@article{DiMauro_1999, title={Does the Patient Have a Mitochondrial Encephalomyopathy?}, volume={14}, ISSN={1708-8283}, url={http://dx.doi.org/10.1177/0883073899014001051}, DOI={10.1177/0883073899014001051}, number={1_suppl}, journal={Journal of Child Neurology}, publisher={SAGE Publications}, author={DiMauro, Salvatore and Bonilla, Eduardo and De Vivo, Darryl C.}, year={1999}, month=nov, pages={S23–S35} }

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