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...

詳細記述

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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 2002
主題:
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オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC379205/
https://ncbi.nlm.nih.gov/pubmed/12152148
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