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Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes.
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- Author(s): Chang TS;Chang TS; Johns DR; Walker D; de la Cruz Z; Maumence IH; Green WR
- Source:
Archives of ophthalmology (Chicago, Ill. : 1960) [Arch Ophthalmol] 1993 Sep; Vol. 111 (9), pp. 1254-62.
- Publication Type:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
- Language:
English
- Additional Information
- Source:
Publisher: American Medical Association Country of Publication: United States NLM ID: 7706534 Publication Model: Print Cited Medium: Print ISSN: 0003-9950 (Print) Linking ISSN: 00039950 NLM ISO Abbreviation: Arch Ophthalmol Subsets: MEDLINE
- Publication Information:
Original Publication: Chicago, IL : American Medical Association
- Subject Terms:
- Abstract:
Recent advances in molecular genetics have led to a better understanding of mitochondrially inherited diseases. Mitochondrial encephalomyopathy overlap syndrome is one such group of diseases in which ocular abnormalities are frequently manifest. The authors describe the clinical, molecular genetic, and pathologic findings of two patients with the mitochondrial encephalomyopathy overlap syndrome. The patients shared a similar clinical course with features overlapping the three traditionally distinct clinical phenotypes (the Kearns-Sayre syndrome; the syndrome of mitochondrial encephalopathy, lactic acidosis, and stroke [MELAS], and the syndrome of myoclonus, epilepsy, and ragged red fibers [MERRF]). The patients had identical mitochondrial DNA mutations (at nucleotide position 3243) and had similar ultrastructural abnormalities, including abundant enlarged mitochondria with "whorled" and "tubular" cristae. These abnormal mitochondria appeared to be preferentially distributed in cells with high metabolic activity (retinal pigment epithelium, corneal endothelium, and extraocular muscles).
- Grant Information:
EY 01761 17 United States EY NEI NIH HHS; NS 01358 United States NS NINDS NIH HHS
- Accession Number:
0 (DNA, Mitochondrial)
- Publication Date:
Date Created: 19930901 Date Completed: 19930930 Latest Revision: 20190704
- Publication Date:
20231215
- Accession Number:
10.1001/archopht.1993.01090090106028
- Accession Number:
8363469
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