{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:28Z","timestamp":1786976848923,"version":"build-2736575974"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,6,30]],"date-time":"2003-06-30T00:00:00Z","timestamp":1056931200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We report four new cases of mitochondrial myopathy and sideroblastic anemia (MSA). Hallmark features of MSA include progressive exercise intolerance during childhood, onset of sideroblastic anemia around adolescence, basal lactic acidemia, and mitochondrial myopathy. Autosomal recessive inheritance of MSA in the family we describe is assumed due to the presence of two affected sibling pairs, unaffected parents, an unaffected sibling, and parental consanguinity. The nuclear families we describe are paternally related and originate from the same Iranian city as a family with MSA described by [Inbal et al.,\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib3\">1995<\/jats:ext-link>\n                    ]. These families provide an opportunity to clarify the molecular basis of tissue specific expression of mitochondrial disorders. \u00a9 2003 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.20368","type":"journal-article","created":{"date-parts":[[2004,2,18]],"date-time":"2004-02-18T12:13:54Z","timestamp":1077106434000},"page":"201-204","source":"Crossref","is-referenced-by-count":32,"title":["Mitochondrial myopathy and sideroblastic anemia"],"prefix":"10.1002","volume":"125A","author":[{"given":"Kari A.","family":"Casas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan","family":"Fischel\u2010Ghodsian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,6,30]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-199707000-00002"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.11.1945"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550325"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(74)90820-1"},{"key":"e_1_2_10_6_1","first-page":"2375","volume-title":"The metabolic and molecular bases of inherited disease","author":"Shoffner JM","year":"2001"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20368","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20368","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T09:24:51Z","timestamp":1697621091000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20368"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,6,30]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,3]]}},"alternative-id":["10.1002\/ajmg.a.20368"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20368","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,6,30]]}}}