{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:09:10Z","timestamp":1777370950875,"version":"3.51.4"},"reference-count":40,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2003,9,16]],"date-time":"2003-09-16T00:00:00Z","timestamp":1063670400000},"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":[[2003,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke\u2010like episode (MELAS) is typically associated with a single point mutation in the mitochondrial genome (mtDNA). Because mtDNA is known to have a higher mutation rate than nuclear DNA, we speculate that some patients with MELAS syndrome may harbor more than one mutation in mtDNA. For this purpose, mtDNA extracted from muscle containing dysmorphic mitochondria from a 32\u2010year\u2010old man with MELAS was sequenced in its entirety to identify all possible mutations. The result showed a homoplasmic A14693G and a heteroplasmic A3243G. The A14693G transition was not present in 205 unrelated control individuals, was not seen in 76 species randomly selected from GenBank, and appears to disrupt the base pairing within the T\u2010loop of mtDNA tRNA<jats:sup>Glu<\/jats:sup>. His asymptomatic siblings' blood showed wild\u2010type at these positions, whereas the blood of the patient's oligosymptomatic diabetic mother had a heteroplasmic A14693G and an apparent homoplasmic wild\u2010type A3243, suggesting an association of A14693G with diabetes mellitus. This case demonstrates the importance of sequencing the mtDNA in its entirety to evaluate the molecular basis of mitochondriopathy. Muscle Nerve 28: 575\u2013581, 2003<\/jats:p>","DOI":"10.1002\/mus.10473","type":"journal-article","created":{"date-parts":[[2003,10,17]],"date-time":"2003-10-17T12:04:08Z","timestamp":1066392248000},"page":"575-581","source":"Crossref","is-referenced-by-count":33,"title":["Melas with point mutations involving tRNA<sup>Leu<\/sup> (A3243G) and tRNA<sup>Glu<\/sup>(A14693g)"],"prefix":"10.1002","volume":"28","author":[{"given":"Chin\u2010Yuan","family":"Tzen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peterus","family":"Thajeb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsu\u2010Yen","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiu\u2010Ching","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,10,16]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.2.377"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/515460"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.10.1713"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.4.1166"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0079-6603(08)60333-5"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/348651a0"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(91)90042-8"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1994.2119"},{"key":"e_1_2_6_11_2","first-page":"153","article-title":"A new mitochondrial DNA mutation (A3288G) in the tRNA (Leu(UUR)) gene associated with familial myopathy","volume":"164","author":"Hadjigeorgiou GM","year":"1999","journal-title":"Science"},{"key":"e_1_2_6_12_2","first-page":"1026","article-title":"Congenital encephalomyopathy and adult\u2010onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation","volume":"56","author":"Hanna MG","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.65.4.512"},{"key":"e_1_2_6_14_2","first-page":"1017","article-title":"Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus","volume":"56","author":"Hao H","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1017\/S1355838200001047"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.463"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.179.4070.285"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/224759a0"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(94)00079-O"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.7.1043"},{"key":"e_1_2_6_21_2","unstructured":"MITOMAP: a human mitochondrial genome database. 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