{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:08:02Z","timestamp":1787018882517,"version":"build-2736575974"},"reference-count":24,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2005,5,1]],"date-time":"2005-05-01T00:00:00Z","timestamp":1114905600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2005,5]]},"abstract":"<jats:p>We report the seventh case of autosomal recessive inherited mitochondrial myopathy, lactic acidosis, and sideroblastic anemia. The patient, a product of consanguineous Persian Jews, had the association of mental retardation, dysmorphic features, lactic acidosis, myopathy, and sideroblastic anemia. Muscle biopsy demonstrated low activity of complexes 1 and 4 of the respiratory chain. Electron microscopy revealed paracrystalline inclusions in most mitochondria. Southern blot of the mitochondrial DNA did not show any large-scale rearrangements. The patient was found to be homozygous for the 656C\u2192T mutation in the pseudouridine synthase 1 gene ( PUS1). Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia is an oxidative phosphorylation disorder causing sideroblastic anemia, myopathy, and, in some cases, mental retardation that is due to mutations in the nuclear-encoded PUS1 gene. This finding provides additional evidence that mitochondrial ribonucleic acid modification impacts the phenotypic expression of oxidative phosphorylation disorders. ( J Child Neurol 2005;20:449\u2014452).<\/jats:p>","DOI":"10.1177\/08830738050200051301","type":"journal-article","created":{"date-parts":[[2009,5,8]],"date-time":"2009-05-08T18:44:46Z","timestamp":1241808286000},"page":"449-452","source":"Crossref","is-referenced-by-count":65,"title":["Mitochondrial Myopathy, Sideroblastic Anemia, and Lactic Acidosis: An Autosomal Recessive Syndrome in Persian Jews Caused by a Mutation in the PUS1 Gene"],"prefix":"10.1177","volume":"20","author":[{"given":"Avraham","family":"Zeharia","sequence":"first","affiliation":[{"name":"Department of Pediatrics Schneider, Children's Medical of Israel Petah-Tiqva, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan","family":"Fischel-Ghodsian","sequence":"additional","affiliation":[{"name":"Medical Genetics Institute Ahmanson, Department of Pediatrics, Steven Spielberg Pediatric Research Center Cedars-Sinai Medical Center and David Geffen School of Medicine at UCLA Los Angeles, 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