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Histological examination showed mitochondrial myopathy, and subsequent mitochondrial DNA (mtDNA) analysis showed a deletion of approximately 5500 base pairs in 35 to 40% of her muscle mtDNA. We therefore conclude that this patient has developed the Kearns-Sayre syndrome after a Pearson syndrome-like crisis in her first year of life.<\/jats:p>","DOI":"10.1136\/jmg.31.1.45","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"45-50","source":"Crossref","is-referenced-by-count":20,"title":["Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder."],"prefix":"10.1136","volume":"31","author":[{"given":"S","family":"N\u00f8rby","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Lestienne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I M","family":"Nielsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Schmalbruch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"Sj\u00f6","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Warburg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1001\/archopht.1958.00940080296016","article-title":"Retinitis pigmentosa, external ophthalmoplegia and complete heart block","volume":"60","author":"Kearns, T.P.; Sayre, G.P.","year":"1958","unstructured":"Kearns TP, Sayre GP. 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Lancet 1988;i:885.","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1825","DOI":"10.1001\/archopht.1985.01050120059020","article-title":"The retinal manifestations of mitochondrial myopathy. A study of 22 cases","volume":"103","author":"Mullie, M.A.; Harding, A.E.; Petty, R.K.H.","year":"1985","unstructured":"Mullie MA, Harding AE, Petty RKH, et al. The retinal manifestations of mitochondrial myopathy. A study of 22 cases. Arch Ophthalmol 1985;103:1825-30.","journal-title":"Arch Ophthalmol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1016\/S0022-3476(79)80286-3","article-title":"A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction","volume":"95","author":"Pearson, H.A.; Lobel, J.S.; Kocoshis, S.A.","year":"1979","unstructured":"Pearson HA, Lobel JS, Kocoshis SA, et al. 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