Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome

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. Typ...

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Gepubliceerd in:Am J Hum Genet
Hoofdauteurs: Shanske, Sara, Tang, Yingying, Hirano, Michio, Nishigaki, Yutaka, Tanji, Kurenai, Bonilla, Eduardo, Sue, Carolyn, Krishna, Sindu, Carlo, Jose R., Willner, Judith, Schon, Eric A., DiMauro, Salvatore
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2002
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Online toegang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC379205/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12152148/
https://ncbi.nlm.nih.govhttps://doi.org/10.1086/342482
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