{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T00:22:03Z","timestamp":1772842923965,"version":"3.50.1"},"reference-count":13,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>We described a case of a patient with autosomal dominant progressive external ophthalmoplegia (PEO) who presented with the acute onset dysphagia, quadriparesis, ptosis and respiratory insufficiency following a cardiac procedure and mimicking a myasthenic crisis. A pathogenic mutation in the <jats:italic>C10orf2<\/jats:italic> (PEO1) gene was confirmed. The unusual presentation of our patient contributes to expand the clinical phenotype of PEO1 mutations and reinforces the need to consider mitochondrial myopathy as differential diagnosis of myasthenia gravis even in the case of acute onset symptoms.<\/jats:p>","DOI":"10.1136\/bcr-2013-010181","type":"journal-article","created":{"date-parts":[[2013,9,7]],"date-time":"2013-09-07T06:18:51Z","timestamp":1378534731000},"page":"bcr2013010181","source":"Crossref","is-referenced-by-count":8,"title":["Progressive external ophthalmoplegia (PEO) due to a mutation in the <i>C10orf2<\/i> (PEO1) gene mimicking a myasthenic crisis"],"prefix":"10.1136","volume":"2013","author":[{"given":"Dolores","family":"Gonzalez-Moron","sequence":"first","affiliation":[{"name":"Neurogenetics Unit, Hospital JM Ramos Mejia, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose","family":"Bueri","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Austral, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcelo Andres","family":"Kauffman","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, Hospital JM Ramos Mejia, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,9,7]]},"reference":[{"key":"2025082700314908000_2013.sep07_1.bcr2013010181.1","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1016\/j.mito.2009.04.005","article-title":"CPEO and KSS differ in the percentage and location of the mtDNA deletion","volume":"2013","author":"Lopez-Gallardo","year":"2009","journal-title":"Mitochondrion"},{"key":"2025082700314908000_2013.sep07_1.bcr2013010181.2","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1007\/s00415-008-0926-3","article-title":"Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia","volume":"2013","author":"Virgilio","year":"2008","journal-title":"J Neurol"},{"key":"2025082700314908000_2013.sep07_1.bcr2013010181.3","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1016\/j.nmd.2009.10.002","article-title":"Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure","volume":"2013","author":"Bohlega","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"2025082700314908000_2013.sep07_1.bcr2013010181.4","first-page":"1279","article-title":"Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma","volume":"2013","author":"Filosto","year":"2003","journal-title":"Arch Neurol"},{"key":"2025082700314908000_2013.sep07_1.bcr2013010181.5","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1212\/WNL.0b013e3181df099f","article-title":"The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO","volume":"2013","author":"Fratter","year":"2010","journal-title":"Neurology"},{"key":"2025082700314908000_2013.sep07_1.bcr2013010181.6","doi-asserted-by":"crossref","first-page":"6655","DOI":"10.1007\/s11033-012-1471-9","article-title":"Diagnosis of mitochondrial disorders applying massive pyrosequencing","volume":"2013","author":"Kauffman","year":"2012","journal-title":"Mol Biol Rep"},{"key":"2025082700314908000_2013.sep07_1.bcr2013010181.7","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.neuarg.2012.01.003","article-title":"A novel mutation in C10Orf2 (PEO1) in a patient with autosomal dominant chronic progressive ophtalmoplegia (adCPEO), first Argentinean case","volume":"2013","author":"Berardo","year":"2012","journal-title":"Neurologia Argentina"},{"key":"2025082700314908000_2013.sep07_1.bcr2013010181.8","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1055\/s-2004-830903","article-title":"Myasthenia gravis: diagnostic mimics","volume":"2013","author":"Engstrom","year":"2004","journal-title":"Semin Neurol"},{"key":"2025082700314908000_2013.sep07_1.bcr2013010181.9","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1038\/sj.eye.6701924","article-title":"Assessment of visual function in chronic progressive external ophthalmoplegia","volume":"2013","author":"Yu Wai Man","year":"2006","journal-title":"Eye"},{"key":"2025082700314908000_2013.sep07_1.bcr2013010181.10","unstructured":"DiMauro S Hirano M . Mitochondrial DNA deletion syndromes. In: Pagon RA Adam MP Bird TD Dolan CR Fong CT Stephens K , eds. Genereviews. Seattle, WA, 1993."},{"key":"2025082700314908000_2013.sep07_1.bcr2013010181.11","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1080\/09273970500216432","article-title":"Update on chronic progressive external ophthalmoplegia","volume":"2013","author":"Bau","year":"2005","journal-title":"Strabismus"},{"key":"2025082700314908000_2013.sep07_1.bcr2013010181.12","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1111\/j.1468-1331.2010.03171.x","article-title":"TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review","volume":"2013","author":"Martin-Negrier","year":"2011","journal-title":"Euro J Neurol"},{"key":"2025082700314908000_2013.sep07_1.bcr2013010181.13","doi-asserted-by":"crossref","first-page":"138","DOI":"10.3109\/01480540903207076","article-title":"Drugs interfering with mitochondrial disorders","volume":"2013","author":"Finsterer","year":"2010","journal-title":"Drug Chem Toxicol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-010181","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T07:32:02Z","timestamp":1756279922000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-010181"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9,7]]},"references-count":13,"alternative-id":["10.1136\/bcr-2013-010181"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-010181","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,9,7]]}}}