Affiliation:
1. 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
Abstract
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
Subject
Clinical Neurology,General Neuroscience
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