{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:36:41Z","timestamp":1760783801284},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,7,21]],"date-time":"2014-07-21T00:00:00Z","timestamp":1405900800000},"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":[[2014,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: A 61\u2010year\u2010old woman with a 5\u2010year history of progressive muscle weakness and atrophy had a muscle biopsy characterized by a combination of dystrophic features (necrotic fibers and endomysial fibrosis) and mitochondrial alterations [ragged\u2010red, cytochrome <jats:italic>c<\/jats:italic> oxidase (COX)\u2010negative fibers]. <jats:italic>Methods<\/jats:italic>: Sequencing of the whole mtDNA, assessment of the mutation load in muscle and accessible nonmuscle tissues, and single fiber polymerase chain reaction. <jats:italic>Results<\/jats:italic>: Muscle mitochondrial DNA (mtDNA) sequencing revealed a novel heteroplasmic mutation (m.4403G&gt;A) in the gene (<jats:italic>MTTM<\/jats:italic>) that encodes tRNA<jats:sup>Met<\/jats:sup>. The mutation was not present in accessible nonmuscle tissues from the patient or 2 asymptomatic sisters. <jats:italic>Conclusions<\/jats:italic>: The clinical features and muscle morphology in this patient are very similar to those described in a previous patient with a different mutation, also in <jats:italic>MTTM<\/jats:italic>, which suggests that mutations in this gene confer a distinctive \u201cdystrophic\u201d quality. This may be a diagnostic clue in patients with isolated mitochondrial myopathy. <jats:italic>Muscle Nerve<\/jats:italic> 50:292\u2013295, 2014<\/jats:p>","DOI":"10.1002\/mus.24262","type":"journal-article","created":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T04:27:47Z","timestamp":1396931267000},"page":"292-295","source":"Crossref","is-referenced-by-count":8,"title":["Mitochondrial myopathy with dystrophic features due to a novel mutation in the <i>MTTM<\/i> gene"],"prefix":"10.1002","volume":"50","author":[{"given":"Lorenzo","family":"Peverelli","sequence":"first","affiliation":[{"name":"Department of Neurology Columbia University Medical Center, College of Physicians &amp; Surgeons 630 West 168th Street New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carl A.","family":"Gold","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Medical Center, College of Physicians &amp; Surgeons 630 West 168th Street New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali B.","family":"Naini","sequence":"additional","affiliation":[{"name":"Department of Pathology Columbia University Medical Center, College of Physicians &amp; Surgeons New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kurenai","family":"Tanji","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Medical Center, College of Physicians &amp; Surgeons 630 West 168th Street New York New York USA"},{"name":"Department of Pathology Columbia University Medical Center, College of Physicians &amp; Surgeons New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. Orhan","family":"Akman","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Medical Center, College of Physicians &amp; Surgeons 630 West 168th Street New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michio","family":"Hirano","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Medical Center, College of Physicians &amp; Surgeons 630 West 168th Street New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Dimauro","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Medical Center, College of Physicians &amp; Surgeons 630 West 168th Street New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,7,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3275"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2013.126"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/348651a0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90059-N"},{"key":"e_1_2_7_6_1","unstructured":"Mitomap.MITOMAP: a human mitochondrial genome database.http:\/\/wwwmitomaporg2003."},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.3028"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.6.1875"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0091-679X(01)65019-2"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410220409"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.2286304"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(03)00168-8"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.08.004"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.272"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(98)00037-6"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380110158"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24262","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24262","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.24262","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T02:56:09Z","timestamp":1696388169000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.24262"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,21]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1002\/mus.24262"],"URL":"https:\/\/doi.org\/10.1002\/mus.24262","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,21]]}}}