{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T09:05:03Z","timestamp":1764493503715},"reference-count":13,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2004,10,13]],"date-time":"2004-10-13T00:00:00Z","timestamp":1097625600000},"content-version":"vor","delay-in-days":3726,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[1994,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 66\u2010year\u2010old woman with hereditary deafness and multiple symmetric lipomas presented with ataxia, slight myopathy, and neuropathy. Molecular genetic analysis of mitochondrial DNA revealed the adenine to guanine transition at position 8344 in the tRNA gene for lysine that has been associated with the myoclonic epilepsy and ragged red fiber (MERRF) syndrome. The deafness was transmitted by the patien's father and may have been an unrelated autosomal defect rather than a paternally transmitted mitochondrial point mutation. \u00a9 1994 John Wiley &amp; Sons, Inc.<\/jats:p>","DOI":"10.1002\/mus.880170815","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T02:27:46Z","timestamp":1104546466000},"page":"943-945","source":"Crossref","is-referenced-by-count":39,"title":["Ekbom's syndrome: Lipomas, ataxia, and neuropathy with MERRF"],"prefix":"10.1002","volume":"17","author":[{"given":"Peter A.","family":"Calabresi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella","family":"Silvestri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"DiMauro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert C.","family":"Griggs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,13]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410290519"},{"key":"e_1_2_1_3_2","first-page":"113","article-title":"Mitochondrial encephalomyopathies: problems of classification","volume":"7","author":"DiMauro S","year":"1991","journal-title":"Prog Neuropathol"},{"issue":"62","key":"e_1_2_1_4_2","first-page":"479","article-title":"Metabolic myopathies","volume":"18","author":"DiMauro S","year":"1992","journal-title":"Handbook Clin Neurol"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198307213090304"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1975.tb01379.x"},{"issue":"3","key":"e_1_2_1_7_2","first-page":"281","article-title":"Multiple symmetrical lipomalosis and multisystem disorders associated with lipoma: two other conditions related to mitochondrial dysfunction","volume":"42","author":"Federico A","year":"1992","journal-title":"Neurology"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(80)90031-3"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.11.6715"},{"key":"e_1_2_1_10_2","first-page":"551","article-title":"Multiple symmetrical lipomas with high levels of mtDNA with the tRNAlys A to G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged\u2010red fibers (MERRF) syndrome","volume":"52","author":"Holme E","year":"1993","journal-title":"Am J Hum Genet"},{"issue":"2","key":"e_1_2_1_11_2","first-page":"216","article-title":"Mitochondrial dysfunction in multiple symmetrical lipomatosis?","volume":"43","author":"Klopstock T","year":"1993","journal-title":"Neurology"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410260104"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90059-N"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.6.1200"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.880170815","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.880170815","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T05:41:44Z","timestamp":1698126104000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.880170815"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,8]]},"references-count":13,"journal-issue":{"issue":"8","published-print":{"date-parts":[[1994,8]]}},"alternative-id":["10.1002\/mus.880170815"],"URL":"https:\/\/doi.org\/10.1002\/mus.880170815","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,8]]}}}