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Accession information: (02)00448-9h.htm (shortcode: tab001ksb); 11 April 2002
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Mitochondrial diseases

Josephine S. Modica-Napolitano and Keshav K. Singh

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Table 1. Mitochondrial diseasesa (tab001ksb)

Tissue/organ affected

Clinical condition

Blood

Pearson’s syndrome
Brain Seizures
Myoclonus
Ataxia
Stroke
Demetia
Migraine
Colon Pseudo-obstruction
Eye Optic neuropathy
Ophthalmoplegia
Retinopathy
Heart Conduction disorder
Wolff–Parkinson–White syndrome
Cardiomyopathy

Inner ear

Sensorineural hearing loss
Kidney Fanconi’s syndrome
Glomerulopathy
Liver Hepatopathy
Skeletal muscle Myopathy
Neuropathy
a Data in the table are derived from Ref. 38. Mitochondrial diseases can arise from mutations in nuclear DNA or in mitochondrial DNA. Deficits in ATP production might result from altered functions of proteins involved directly in oxidative phosphorylation or involved in communication between the nucleus and mitochondria, and might have deleterious effects on several organ systems. Many mitochondrial diseases are so new that they have not yet been mentioned in the medical textbooks or in the medical literature.

References cited in Table 1

38 White, A.J. (2001) Mitochondrial toxicity and HIV therapy. Sex Transm Infect 77, 158-173, PubMed

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