Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome

American Journal of Human Genetics

Volumn 71, Issue 3, 2002, Pages 679-683

  Shanske, Sara ^a   Tang, Yingying ^a   Hirano, Michio ^a   Nishigaki, Yutaka ^a   Tanji, Kurenai ^a   Bonilla, Eduardo ^a   Sue, Carolyn ^a   Krishna, Sindu ^a   Carlo, Jose R ^c   Willner, Judith ^b   Schon, Eric A ^a   DiMauro, Salvatore ^a  

^a Columbia Univ Coll Physic/Surg ^*  (United States)

^b MOUNT SINAI MEDICAL CENTER   (United States)

^c Clinicas Las Americas   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; DNA FRAGMENT; MITOCHONDRIAL DNA; RESTRICTION ENDONUCLEASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; EXTRAOCULAR MUSCLE; FAMILY STUDY; FEMALE; GENE DELETION; GENE DUPLICATION; HUMAN; MALE; MORPHOLOGY; MUSCLE BIOPSY; NECK MUSCLE; OPHTHALMOPLEGIA; PEARSON SYNDROME; PHARYNX DISEASE; PRIORITY JOURNAL; PTOSIS; SIDEROBLASTIC ANEMIA; SOUTHERN BLOTTING;

EID: 18544387713     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/342482     Document Type: Article

References (21)

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5. Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome
6. Rearranged mitochondrial genomes are present in human oocytes
7. Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome
8. Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA
9. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes
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13. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA
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17. Kearns-Sayre syndrome in twins: Lethal dominant mutation or acquired disease?
18. Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines
19. Rearrangements of human mitochondrial DNA (mtDNA): New insights into the regulation of mtDNA copy number and gene expression
20. Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies
21. Deletions of mitochondrial DNA in Kearns-Sayre syndrome