{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T20:28:06Z","timestamp":1761596886156},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,13]],"date-time":"2004-10-13T00:00:00Z","timestamp":1097625600000},"content-version":"vor","delay-in-days":3938,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[1994,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report myoclonic epilepsy with ragged\u2010red fibers (MERRF) syndrome in a Chinese family with confirmed mitochondrial DNA point mutation. Six members of the family including the grandmother, two siblings, and three grandchildren were affected. Among them, action myoclonus was seen in five; short stature, muscle weakness, and mental retardation in four; lactic acidosis, hearing impairment, and ataxia in two; and seizures in one. Muscle biopsy from two affected siblings revealed ragged\u2010red fibers and abundant subsarcolemmal mitochondria with paracrystalline inclusions. Pedigree analysis suggests a maternal transmission. Analysis of mitochondrial DNA showed a point mutation from A to G at the 8344th nucleotide position located in the tRNA<jats:sub>Lys<\/jats:sub> gene. To our knowledge, this is the first report of MERRF syndrome with such genetic defect from a Chinese family. The present and previous reports support the notion that mitochondrial DNA point mutation at the 8344th nucleotide position is the most common cause of MERRF syndrome. \u00a9 1994 John Wiley &amp; Sons, Inc.<\/jats:p>","DOI":"10.1002\/mus.880170107","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T08:23:10Z","timestamp":1104567790000},"page":"52-57","source":"Crossref","is-referenced-by-count":27,"title":["Myoclonic epilepsy with ragged\u2010red fibers (MERRF) syndrome: Report of a Chinese family with mitochondrial DNA point mutation in tRNA<sup>Lys<\/sup> gene"],"prefix":"10.1002","volume":"17","author":[{"given":"Wan","family":"Fang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chin\u2010Chang","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nai\u2010Shun","family":"Chu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng\u2010Chun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rou\u2010Shayn","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng\u2010Yoong","family":"Pang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kwang\u2010Dar","family":"Shih","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yau\u2010Huei","family":"Wei","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":"10.1093\/brain\/112.5.1231"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170602"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.44.1.79"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(80)90031-3"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/348651a0"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(91)90042-8"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)92981-7"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/331717a0"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(05)80860-5"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(88)90096-2"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198905183202001"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(87)90129-8"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170303"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(91)90148-Z"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(91)91535-K"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90059-N"},{"key":"e_1_2_1_18_2","first-page":"408","article-title":"Familial myoclonic epilepsy syndrome associated with skeletal muscle mitochondrial abnormalities","volume":"23","author":"Tsairis P","year":"1973","journal-title":"Neurology"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(88)90218-8"},{"key":"e_1_2_1_20_2","first-page":"789","article-title":"A common mitochondrial DNA mutation in the tRNALys of patients with myoclonus epilepsy associated with ragged\u2010red fibers","volume":"21","author":"Yoneda M","year":"1990","journal-title":"Biochem Int"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.11.1838"},{"key":"e_1_2_1_22_2","first-page":"203","article-title":"Rapid detection of the A \u2192 G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged\u2010red fibers (MERRF)","volume":"48","author":"Zeviani M","year":"1991","journal-title":"Am J Hum Genet"}],"container-title":["Muscle &amp; 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