{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T20:08:24Z","timestamp":1771013304225,"version":"3.50.1"},"reference-count":21,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"published-print":{"date-parts":[[1996,7,1]]},"DOI":"10.1136\/jnnp.61.1.47","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T22:20:59Z","timestamp":1226355659000},"page":"47-51","source":"Crossref","is-referenced-by-count":36,"title":["The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome."],"prefix":"10.1136","volume":"61","author":[{"given":"G M","family":"Fabrizi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Cardaioli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G S","family":"Grieco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Cavallaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Malandrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Manneschi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M T","family":"Dotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Federico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Guazzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","first-page":"117","article-title":"Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): disease entity or a syndrome? Lightand electron-microscopic studies of two cases","volume":"47","author":"Fukuhara, N.; Tokiguchi, S.; Shirakawa, K.; Tsubaki, T.","year":"1980","unstructured":"Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T. Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): disease entity or a syndrome? Lightand electron-microscopic studies of two cases and review of literature. J Neurol Sci 1980;47: 117-33.","journal-title":"and review of literature. J Neurol Sci"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1002\/ana.410160409","article-title":"Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes","volume":"16","author":"Pavlakis, S.G.; Phillips, P.C.; DiMauro, S.; DeVivo, D.C.; Rowland, L.P.","year":"1984","unstructured":"Pavlakis SG, Phillips PC, DiMauro S, DeVivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann Neurol 1984;16:481-8.","journal-title":"Ann Neurol"},{"issue":"61","key":"ref_3","first-page":"931","article-title":"Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation","volume":"1991","author":"Shoffner, J.M.; Lott, M.T.; Lezza, A.M.; Seibel, P.; Ballinger, S.W.; Wallace, D.C.","unstructured":"Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 1991,61:931-7.","journal-title":"Cell"},{"key":"ref_4","first-page":"1213","article-title":"A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)","volume":"51","author":"Silvestri, G.; Moraes, C.T.; Shanske, S.; Oh, S.J.; DiMauro, S.","year":"1992","unstructured":"Silvestri G, Moraes CT, Shanske S, Oh SJ, DiMauro S. A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Husn Genet 1992;51:1213-7.","journal-title":"Am J Husn Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1002\/mus.880181422","article-title":"Clinical features of MELAS and mitochondrial DNA mutations","volume":"3","author":"Goto, Y.","year":"1995","unstructured":"Goto Y. Clinical features of MELAS and mitochondrial DNA mutations. Muscle Nerve 1995;3(suppl): 107-12.","journal-title":"Muscle Nerve"},{"key":"ref_6","first-page":"242","article-title":"Biochemical differences between intermyofibrillar and subsarcolemmal mitochondria from human muscle. _7 Inherit","volume":"1","author":"Federico, A.; Manneschi, L.; Paolimi, E.","year":"1987","unstructured":"Federico A, Manneschi L, Paolimi E. Biochemical differences between intermyofibrillar and subsarcolemmal mitochondria from human muscle. _7 Inherit Metab Dis 1987;1O(suppl):242-6.","journal-title":"Metab Dis"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1016\/0006-291X(91)91900-W","article-title":"Quantitation of mitochondrial DNA carrying the tRNALys mutation in MERRF patients","volume":"179","author":"Tanno, Y.; Yoneda, M.; Nonaka, I.; Tanaka, K.; Miyatake, T.; Tsuji, S.","year":"1991","unstructured":"Tanno Y, Yoneda M, Nonaka I, Tanaka K, Miyatake T, Tsuji S. Quantitation of mitochondrial DNA carrying the tRNALys mutation in MERRF patients. Biochenm Biophys Res Commun 1991;179:880-5.","journal-title":"Biochenm Biophys Res Commun"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1212\/WNL.41.7.1043","article-title":"Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome","volume":"41","author":"Matthews, P.M.; Phil, D.; Tampieri, D.","year":"1991","unstructured":"Matthews PM, Phil D, Tampieri D, et al. Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome. Neurology 1991;41:1043-6.","journal-title":"Neurology"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1093\/brain\/118.3.721","article-title":"The mitochondrial DNA transfer RNALeu(UUR) A to G (3243) mutation. A clinical and genetic study","volume":"118","author":"Hammans, SR, Sweeney; MG, Hanna; MG, Brockington; M, Morgan-Hughes; JA, Harding; A.E.","year":"1995","unstructured":"Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE. The mitochondrial DNA transfer RNALeu(UUR) A to G (3243) mutation. A clinical and genetic study. Brain 1995;118:721-34.","journal-title":"Brain"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1007\/BF00878873","article-title":"Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA","volume":"242","author":"Mariotti, C.; Savarese, N.; Soumalainen, A.","year":"1995","unstructured":"Mariotti C, Savarese N, Soumalainen A, et al. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. Neurol 1995;242:304-12. _","journal-title":"Neurol"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/ana.410310408","article-title":"MELAS: clinical features, biochemistry, and molecular genetics","volume":"31","author":"Ciafaloni, E.; Ricci, E.; Shanske, S.","year":"1992","unstructured":"Ciafaloni E, Ricci E, Shanske S, et al. MELAS: clinical features, biochemistry, and molecular genetics. Anni Neurol 1992;31:391-8.","journal-title":"Anni Neurol"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/0960-8966(92)90045-8","article-title":"MELAS: an original case and clinical criteria for diagnosis","volume":"2","author":"Hirano, M.; Ricci, E.; Koenigsberg, M.R.","year":"1992","unstructured":"Hirano M, Ricci E, Koenigsberg MR, et al. MELAS: an original case and clinical criteria for diagnosis. Neuromuscul Disord 1992;2: 125-35.","journal-title":"Neuromuscul Disord"},{"key":"ref_13","first-page":"494","article-title":"Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies","volume":"8","author":"Chen, R.-S.; Huang, C.-C.; Lee, C.-C.","year":"1993","unstructured":"Chen R-S, Huang C-C, Lee C-C, et al. Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies. Acta Neurol Scand 1993;8:494-8.","journal-title":"Acta Neurol Scand"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1159\/000117115","article-title":"The 3243 MELAS mutation in a pedigree with MERRF","volume":"35","year":"1995","unstructured":"Folgero T, Torbergsen T, 0ian P. The 3243 MELAS mutation in a pedigree with MERRF. Eur Neurol 1995; 35:168-71.","journal-title":"Eur Neurol"},{"key":"ref_15","first-page":"102","article-title":"Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple lipomas","volume":"3","author":"Larsson, N.-G.; Tulinius, M.H.; Holme, E.; Oldfors, A.","year":"1995","unstructured":"Larsson N-G, Tulinius MH, Holme E, Oldfors A. Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple lipomas. Muscle Nerve 1995;3(suppl): 102-6.","journal-title":"Muscle Nerve"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1002\/mus.880170815","article-title":"Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF","volume":"17","author":"Calabresi, P.; Silvestri, G.; DiMauro, S.; Criggs, C.","year":"1994","unstructured":"Calabresi P, Silvestri G, DiMauro S, Criggs C. Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF. Musclk Nerve 1994;17:943-5.","journal-title":"Musclk Nerve"},{"key":"ref_17","first-page":"207","article-title":"Multiple deletions of mitochondrial DNA","volume":"41","author":"Ciafaloni, E.; Shanske, S.; Apostolski, S.","year":"1991","unstructured":"Ciafaloni E, Shanske S, Apostolski S, et al. Multiple deletions of mitochondrial DNA. Neurology 1991;41 (suppl):207.","journal-title":"Neurology"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1159\/000472390","article-title":"A MERRF\/ MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA''","volume":"1","author":"Zeviani, M.; Muntoni, F.; Savarese, N.","year":"1992","unstructured":"Zeviani M, Muntoni F, Savarese N, et al. A MERRF\/ MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA'' gene. Eur]_ Humn Genet 1992;1:80-7.","journal-title":"gene. Eur]_ Humn Genet"},{"key":"ref_19","first-page":"934","article-title":"The mitochondrial tRNALeu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle","volume":"50","author":"Moraes, C.T.; Ricci, E.; Bonilla, E.; DiMauro, S.; Schon, E.A.","year":"1992","unstructured":"Moraes CT, Ricci E, Bonilla E, DiMauro S, Schon EA. The mitochondrial tRNALeu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Am 7 Hum Genet 1992;50:934-49.","journal-title":"Am 7 Hum Genet"},{"key":"ref_20","first-page":"2906","article-title":"Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(UUR) gene an etiologic hot spot?","volume":"92","author":"Moraes, C.T.; Ciacci, F.; Bonilla, E.","year":"1993","unstructured":"Moraes CT, Ciacci F, Bonilla E, et al. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(UUR) gene an etiologic hot spot? _7 Clin Invest 1993;92: 2906-15."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/0960-8966(94)00079-O","article-title":"New mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene","volume":"5","author":"Manfredi, G.; Schon, E.A.; Moraes, C.T.","year":"1995","unstructured":"Manfredi G, Schon EA, Moraes CT, et al. New mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. N\"euromuscul Disord 1995; 5:391-8.","journal-title":"N\"euromuscul Disord"}],"container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.61.1.47","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,26]],"date-time":"2020-09-26T02:53:43Z","timestamp":1601088823000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.61.1.47"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,7,1]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1996,7,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.61.1.47","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[1996,7,1]]}}}