Mitochondrial DNA and Diseases of the Nervous System: The Spectrum
- 1 January 1998
- journal article
- other
- Published by SAGE Publications in The Neuroscientist
- Vol. 4 (1) , 53-63
- https://doi.org/10.1177/107385849800400113
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, 1998Keywords
This publication has 52 references indexed in Scilit:
- Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.Journal of Clinical Investigation, 1990
- Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutationCell, 1990
- Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre SyndromeNew England Journal of Medicine, 1989
- Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic NeuropathyScience, 1988
- Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA diseaseCell, 1988
- Deletions of mitochondrial DNA in Kearns‐Sayre syndromeNeurology, 1988
- Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathiesNature, 1988
- Mitochondrial DNA and human evolutionNature, 1987
- INTRAMITOCHONDRIAL FIBERS WITH DNA CHARACTERISTICSThe Journal of cell biology, 1963
- Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart BlockA.M.A. Archives of Ophthalmology, 1958