{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T17:35:22Z","timestamp":1767893722553,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2472,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1998,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An out\u2010of\u2010frame mutation of the mitochondrial DNA\u2010encoded subunit I of cytochrome <jats:italic>c<\/jats:italic> oxidase (COX) was discovered during investigation of a severe isolated muscle COX deficiency in a patient with motor neuron\u2010like degeneration. The mutation is a heteroplasmic 5\u2010bp microdeletion located in the 5\u2032 end of the COI gene, leading to premature termination of the corresponding translation product. Western blot analysis, immunohistochemistry, and single\u2010fiber polymerase chain reaction demonstrated a tight correlation between COX defect, COX I expression, and percentage of mutation. COX subunits II, III, and IV were decreased as well, suggesting a defective assembly of COX holoenzyme. The mutation was associated with a clinical phenotype unusual for a mitochondrial disorder, that is, an isolated motor neuron disease(MND) with some atypical findings, including early onset, preferential involvement of the upper motor neuron, and increased cerebrospinal fluid protein content. MND may arise from impaired scavenging and overproduction of free oxygen radicals, a by\u2010product of oxidative phosphorylation (OXPHOS). Our observation suggests that OXPHOS impairment could play a role in the pathogenesis of some MND cases.<\/jats:p>","DOI":"10.1002\/ana.410430119","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:10:19Z","timestamp":1104592219000},"page":"110-116","source":"Crossref","is-referenced-by-count":186,"title":["Cytochrome <i>c<\/i> Oxidase subunit I microdeletion in a patient with motor neuron disease"],"prefix":"10.1002","volume":"43","author":[{"given":"Giacomo 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