{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Shanske S"],"funding":["NICHD NIH HHS","NINDS NIH HHS"],"pagination":["679-83"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC379205"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["71(3)"],"pubmed_abstract":["Single deletions of mitochondrial DNA (mtDNA) are associated with three major clinical conditions: Kearns-Sayre syndrome, a multisystem disorder; Pearson syndrome (PS), a disorder of the hematopoietic system; and progressive external ophthalmoplegia (PEO), primarily affecting the ocular muscles. Typically, single mtDNA deletions are sporadic events, since the mothers, siblings, and offspring of affected individuals are unaffected. We studied a woman who presented with PEO, ptosis, and weakness of pharyngeal, facial, neck, and limb muscles. She had two unaffected children, but another of her children, an infant son, had sideroblastic anemia, was diagnosed with PS, and died at age 1 year. Morphological analysis of a muscle biopsy sample from the mother showed cytochrome c oxidase-negative ra"],"journal":["American journal of human genetics"],"pubmed_title":["Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome."],"pmcid":["PMC379205"],"funding_grant_id":["NS 39854","P01 HD032062","HD 32062","R01 NS039854","NS 11766","NS 28828","P01 NS011766"],"pubmed_authors":["Willner J","Schon EA","Krishna S","DiMauro S","Carlo JR","Nishigaki Y","Tanji K","Hirano M","Bonilla E","Shanske S","Tang Y","Sue C"],"additional_accession":[]},"is_claimable":false,"name":"Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.","description":"Single deletions of mitochondrial DNA (mtDNA) are associated with three major clinical conditions: Kearns-Sayre syndrome, a multisystem disorder; Pearson syndrome (PS), a disorder of the hematopoietic system; and progressive external ophthalmoplegia (PEO), primarily affecting the ocular muscles. Typically, single mtDNA deletions are sporadic events, since the mothers, siblings, and offspring of affected individuals are unaffected. We studied a woman who presented with PEO, ptosis, and weakness of pharyngeal, facial, neck, and limb muscles. She had two unaffected children, but another of her children, an infant son, had sideroblastic anemia, was diagnosed with PS, and died at age 1 year. Morphological analysis of a muscle biopsy sample from the mother showed cytochrome c oxidase-negative ra","dates":{"release":"2002-01-01T00:00:00Z","publication":"2002 Sep","modification":"2025-05-29T20:01:26.697Z","creation":"2019-03-27T00:50:16Z"},"accession":"S-EPMC379205","cross_references":{"pubmed":["12152148"],"doi":["10.1086/342482"]}}