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Review Article
Seminars in Medicine of the Beth Israel Deaconess Medical Center
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Volume 333:638-644 September 7, 1995 Number 10
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Mitochondrial DNA and Disease
Donald R. Johns, M.D.

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The mitochondrial encephalomyopathies are a diverse group of disorders that result from the structural, biochemical, or genetic derangement of mitochondria.1 Since mitochondrial dysfunction can affect virtually all organ systems (Figure 1), physicians in many specialties see patients with mitochondrial diseases. Despite a bewildering array of clinical manifestations (Table 1 and Table 2) and variations in the mode of onset, course, and progression of disease, many mitochondrial disorders share prominent systemic effects (Table 2) that contribute to their morbidity.


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Figure 1. Interaction between Genes Encoded by Nuclear DNA and Those Encoded by Mitochondrial DNA in OxidativePhosphorylation.

The . . . [Full Text of this Article]

 
Structure and Function of Mitochondrial DNA

Classic Phenotypes of Mitochondrial Encephalomyopathy

Chronic Progressive External Ophthalmoplegia

Autosomally Transmitted Multiple Deletions in Mitochondrial DNA

The Melas Syndrome

Myoclonic Epilepsy with Ragged-Red Fibers

Neuropathy, Ataxia, and Retinitis Pigmentosa and Maternally Inherited Leigh Disease

Leber's Hereditary Optic Neuropathy

Systemic Manifestations of Mitochondrial-DNA Mutations

Mitochondrial-DNA Mutations in Common Diseases

Summary

Discussion


Source Information

From the Division of Neuromuscular Disease, Department of Neurology, Beth Israel Hospital and Harvard Medical School, Boston.

Address reprint requests to Dr. Johns at Harvard Medical School, Bldg. B1-242, 220 Longwood Ave., Boston, MA 02115.

References


Related Letters:

Mitochondrial DNA and Disease
Stoicheff H., Vital C., Odawara M., Yamashita K., Johns D. R.
Extract | Full Text  
N Engl J Med 1996; 334:270-271, Jan 25, 1996. Correspondence

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