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The Neuroscientist, Vol. 4, No. 1, 53-63 (1998)
DOI: 10.1177/107385849800400113

Other

Mitochondrial DNA and Diseases of the Nervous System: The Spectrum

Salvatore Dimauro

H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases Departments of Neurology and Genetics and Development Columbia University College of Physicians and Surgeons New York, New York

Eric A. Schon

H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases Departments of Neurology and Genetics and Development Columbia University College of Physicians and Surgeons New York, New York

The past 9 years have witnessed the development of a new chapter in human pathology related to mutations in the "other genome" or the "25th chromosome," namely mitochondrial DNA (mtDNA). An astounding array of multisystemic disorders, almost always involving muscle and brain (mitochondrial encephalomyopathies) have been attributed to over 50 point mutations and a multitude of rearrangements in mtDNA. Here, we review the still expanding spectrum of proven or putative mtDNA-related disorders, and we try to explain some peculiarities of these diseases according to the new rules of "mitochondrial genetics." NEURO SCIENTIST 4:53-63, 1998

Key Words: KEY WORDS Mitochondria • Mitochondrial DNA (mtDNA) • Mitochondrial encephalomyopathies


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