{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T16:11:40Z","timestamp":1781194300738,"version":"3.54.1"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,7,18]],"date-time":"2013-07-18T00:00:00Z","timestamp":1374105600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Mutations in the <jats:italic>POLG1<\/jats:italic> gene have variable phenotypic presentations and a high degree of clinical suspicion is necessary for their recognition. Parkinsonism and ataxia are the most common movement disorders associated with <jats:italic>POLG1<\/jats:italic> mutations but no phenotype-genotype correlation has been established.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation<\/jats:title>\n            <jats:p>We identified a male patient with progressive external ophthalmoplegia who also developed a progressive bradykinesia, rigidity and camptocormia in the third decade. Parkinsonism was partially responsive to dopaminegic replacement. His father and brother had reportedly similar clinical problems. Genetic analysis identified a novel mutation p.K512M in the <jats:italic>POLG1<\/jats:italic> gene.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>This report further expands the spectrum of <jats:italic>POLG1<\/jats:italic>-associated neurologic problems with the report of a novel mutation in the linker region of the gene, which are rarely associated with parkinsonism.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2377-13-92","type":"journal-article","created":{"date-parts":[[2013,7,18]],"date-time":"2013-07-18T12:14:09Z","timestamp":1374149649000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism"],"prefix":"10.1186","volume":"13","author":[{"given":"Rachel","family":"Dolhun","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin M","family":"Presant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Hedera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,7,18]]},"reference":[{"key":"819_CR1","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1038\/90034","volume":"28","author":"G van Goethem","year":"2001","unstructured":"van Goethem G, Dermaut B, Lofgren A, L\u00f6fgren A, Martin JJ, Van Broeckhoven C: Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA mutations. 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