{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T03:14:47Z","timestamp":1779333287041,"version":"3.51.4"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2747,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1997,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A significant proportion of patients with inborn errors of teh mitochondrial respiratory chain exhibit movement disordrs, particularly dystonia. Point mutations of mitochondrial DNA (mtDNA) are usually expressed systemically, adn defects of platelet respiratory chain function have been described in patients with mtDNA mutations and Leber's hereditary optic neuropathy (LHON). Recent resports have documented families with dystonia in association with LHON and mtDNA complex I gene mutations. We have examined mitochondrial function in platelet mitochondria from patients with familial generalized dystonia (linked or not linked to 9q34) and sporadic focal dystonia. We confirm a previous report of a specific complex I defect in patients with sporadic focal dystonia but could not find any abnormality in patients with familial generalized dystonia, linked or not to 9q34. These results support the existence of a mitochondrial deficiency in sporadic focal dystonia and provide a biochemical dimension to the clinical and genetic distinction between focal and generalized familial dystonia.<\/jats:p>","DOI":"10.1002\/ana.410410421","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T14:58:49Z","timestamp":1104591529000},"page":"556-559","source":"Crossref","is-referenced-by-count":40,"title":["Complex I function in familial and sporadic dystonia"],"prefix":"10.1002","volume":"41","author":[{"given":"A. H. V.","family":"Schapira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Warner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. T.","family":"Gash","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. W. 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