{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T09:15:21Z","timestamp":1789809321786,"version":"4.0.1"},"reference-count":19,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"22","content-domain":{"domain":["neurology.org"],"crossmark-restriction":true},"short-container-title":["Neurology"],"published-print":{"date-parts":[[2013,5,28]]},"DOI":"10.1212\/wnl.0b013e318294b44c","type":"journal-article","created":{"date-parts":[[2013,5,2]],"date-time":"2013-05-02T03:50:53Z","timestamp":1367466653000},"page":"2049-2054","update-policy":"https:\/\/doi.org\/10.1212\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":165,"title":["Phenotypic heterogeneity of the 8344A&gt;G mtDNA \u201cMERRF\u201d mutation"],"prefix":"10.1212","volume":"80","author":[{"given":"Michelangelo","family":"Mancuso","sequence":"first","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Orsucci","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrado","family":"Angelini","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio","family":"Carelli","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo Pietro","family":"Comi","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Minetti","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Moggio","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Mongini","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serenella","family":"Servidei","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Tonin","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Toscano","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graziella","family":"Uziel","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Bruno","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Caldarazzo Ienco","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimiliano","family":"Filosto","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Costanza","family":"Lamperti","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Martinelli","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Moroni","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olimpia","family":"Musumeci","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pegoraro","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Ronchi","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donato","family":"Sauchelli","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Scarpelli","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Sciacco","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Spinazzi","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Lucia","family":"Valentino","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliana","family":"Vercelli","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Zeviani","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Siciliano","sequence":"additional","affiliation":[{"name":"From the Neurological Clinic (M. Mancuso, D.O., E.C.I., G.S.), University of Pisa; Neurological Clinic (C.A., E.P., M. Spinazzi), University of Padova, and IRCCS S. Camillo, Venice; Bambino Ges\u00f9 Hospital (E.B., D.M.), Rome; IRCCS Istituto di Scienze Neurologiche and Department of Biomedical and Neuromotor Sciences (V.C., M.L.V.), University of Bologna; Dino Ferrari Centre (G.P.C., D.R.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_8_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(80)90031-3"},{"key":"e_1_3_8_3_2","first-page":"715","article-title":"A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome","volume":"49","author":"Noer AS","year":"1991","unstructured":"Noer AS, Sudoyo H, Lertrit P, et al.. A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome. Am J Hum Genet 1991;49:715\u2013722.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_8_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90059-N"},{"key":"e_1_3_8_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.6.1200"},{"key":"e_1_3_8_6_2","first-page":"1213","article-title":"A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)","volume":"51","author":"Silvestri G","year":"1992","unstructured":"Silvestri G, Moraes CT, Shanske S, Oh SJ, DiMauro S. A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1992;51:1213\u20131217.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_8_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.74.8.1158"},{"key":"e_1_3_8_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21217"},{"key":"e_1_3_8_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2008.06.010"},{"key":"e_1_3_8_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2011.01.003"},{"key":"e_1_3_8_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.10.1713"},{"key":"e_1_3_8_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330613"},{"key":"e_1_3_8_13_2","first-page":"217","article-title":"Clinical features and genetics of myoclonic epilepsy with ragged red fibers","volume":"89","author":"DiMauro S","year":"2002","unstructured":"DiMauro S, Hirano M, Kaufmann P, et al.. Clinical features and genetics of myoclonic epilepsy with ragged red fibers. Adv Neurol 2002;89:217\u2013229.","journal-title":"Adv Neurol"},{"key":"e_1_3_8_14_2","doi-asserted-by":"publisher","DOI":"10.2174\/156652409789839099"},{"key":"e_1_3_8_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1388-2457(98)00041-8"},{"key":"e_1_3_8_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-011-0703-4"},{"key":"e_1_3_8_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23673"},{"key":"e_1_3_8_18_2","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e318244477d"},{"key":"e_1_3_8_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(200004)23:4<538::AID-MUS12>3.0.CO;2-T"},{"key":"e_1_3_8_20_2","first-page":"1201","article-title":"Segregation and manifestations of the mtDNA tRNA(Lys) A\u2192G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome","volume":"51","author":"Larsson NG","year":"1992","unstructured":"Larsson NG, Tulinius MH, Holme E, et al.. Segregation and manifestations of the mtDNA tRNA(Lys) A\u2192G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet 1992;51:1201\u20131212.","journal-title":"Am J Hum Genet"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/pdfdirect\/10.1212\/WNL.0b013e318294b44c","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T10:40:13Z","timestamp":1711622413000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.0b013e318294b44c"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,28]]},"references-count":19,"journal-issue":{"issue":"22","published-print":{"date-parts":[[2013,5,28]]}},"alternative-id":["10.1212\/WNL.0b013e318294b44c"],"URL":"https:\/\/doi.org\/10.1212\/wnl.0b013e318294b44c","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,28]]}}}