| Title |
Mitochondrial mutations in neuro-ophthalmological diseases. A review. |
| Creator |
Morris, M.A. |
| Affiliation |
Institute of Medical Genetics, University Medical Centre, Geneva, Switzerland. |
| Abstract |
Mutations in the genetic material of mitochondria have been described in patients with a range of neuro-ophthalmological and neuromuscular disorders. Many cases of Leber's hereditary optic neuropathy are caused by a single point mutation, for example, and Kearns-Sayre syndrome, chronic external ophthalmoplegia, and other mitochondrial cytopathies are frequently associated with large-scale deletions of mitochondrial genes. A knowledge of the role of the mitochondrial genome and of the precise nature of these mutations is important in understanding the etiology of such diseases and is already leading to more effective therapy. |
| Subject |
Chromosome Deletion; DNA, Mitochondrial; Eye Diseases; Humans; Kearns-Sayre Syndrome; Mutation; Nervous System Diseases; Ophthalmoplegia; Optic Atrophies, Hereditary |
| Format |
application/pdf |
| Publication Type |
Journal Article |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher |
Lippincott, Williams & Wilkins |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
© North American Neuro-Ophthalmology Society |
| Setname |
ehsl_novel_jno |
| ID |
226198 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6rv3tsb/226198 |
