{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T18:58:14Z","timestamp":1785351494788,"version":"3.55.0"},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,4,28]],"date-time":"2010-04-28T00:00:00Z","timestamp":1272412800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2010,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Missense mutations in the gene for polymerase \u03b3 1 (<jats:italic>POLG1<\/jats:italic>) cause a number of phenotypically heterogeneous mitochondrial diseases, most commonly progressive external ophthalmoplegia, and are characterized by the accumulation of multiple, large\u2010scale deletions of mitochondrial DNA. The triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) has been demonstrated in a small subset of patients with <jats:italic>POLG1<\/jats:italic> mutations. We report a sporadic case of an 80\u2010year\u2010old compound heterozygote man who presented with SANDO and was found to have three known pathogenic mutations in the <jats:italic>POLG1<\/jats:italic> gene (p.T251I\/p.P587L\/p.G848S). To our knowledge, none of these mutations have been demonstrated previously in SANDO. This patient's late presentation illustrates that a mitochondrial disorder should be considered regardless of age if the clinical symptoms warrant. Muscle Nerve, 2010<\/jats:p>","DOI":"10.1002\/mus.21636","type":"journal-article","created":{"date-parts":[[2010,4,29]],"date-time":"2010-04-29T14:46:31Z","timestamp":1272552391000},"page":"882-885","source":"Crossref","is-referenced-by-count":28,"title":["Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous <i>POLG<\/i> mutations"],"prefix":"10.1002","volume":"41","author":[{"given":"Michael D.","family":"Weiss","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Russell P.","family":"Saneto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,4,28]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2005.03.029"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20824"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.05.016"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.05.009"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201627"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000140494.58732.83"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00216-X"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000156516.77696.5A"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2005.07.018"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.1124"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000033795.17156.00"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410370107"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201341"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.4.553"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000056088.09408.3C"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.9.1279"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.63.1.107"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl097"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/90034"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl088"},{"key":"e_1_2_5_22_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.1.239"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.21636","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.21636","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T00:25:17Z","timestamp":1696897517000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.21636"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4,28]]},"references-count":21,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,6]]}},"alternative-id":["10.1002\/mus.21636"],"URL":"https:\/\/doi.org\/10.1002\/mus.21636","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,4,28]]}}}