{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:16:59Z","timestamp":1760833019746,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,3]]},"abstract":"<jats:p>A patient with Fuch's corneal dystrophy, sensorineural hearing loss, diabetes, cardiac conduction defects, ataxia, and hyperreflexia is described. Analysis of lymphocyte mitochondrial DNA showed missense mutations usually associated with Leber's hereditary optic neuropathy. The occurrence of Fuch's dystrophy in this patient and the biology of corneal endothelial cells suggest that mitochondrial defects could be the cause of Fuch's endothelial dystrophy.<\/jats:p>","DOI":"10.1136\/jmg.35.3.258","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"258-259","source":"Crossref","is-referenced-by-count":17,"title":["Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations."],"prefix":"10.1136","volume":"35","author":[{"given":"R L","family":"Albin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,3,1]]},"reference":[{"key":"ref_1","article-title":"Oxidative phosphorylation diseases","volume-title":"The metabolic and molecular bases of inherited diseases","author":"Shoffner, J.M.; Wallace, D.C.","year":"1995","unstructured":"Shoffner JM, Wallace DC. 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Curr Eye Res 1986;5:939-47.","journal-title":"Curr Eye Res"},{"key":"ref_7","first-page":"1987","article-title":"Inheritence of Fuch's combined dystrophy","volume":"86","author":"Magovern, M.; Beauchamp, G.R.; McTigue, J.W.; Fine, B.S.; Baumiller, R.C.","year":"1979","unstructured":"Magovern M, Beauchamp GR, McTigue JW, Fine BS, Baumiller RC. Inheritence of Fuch's combined dystrophy. Ophthalmology 1979;86: 1987-23.","journal-title":"Ophthalmology"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.3.258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:57:16Z","timestamp":1760770636000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.3.258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,3]]},"references-count":7,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1998,3,1]]},"published-print":{"date-parts":[[1998,3]]}},"alternative-id":["10.1136\/jmg.35.3.258"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.3.258","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1998,3]]}}}