Literature DB >> 14627683

Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son.

G Puoti, F Carrara, S Sampaolo, M De Caro, C M Vincitorio, F Invernizzi, M Zeviani.   

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Year:  2003        PMID: 14627683      PMCID: PMC1735322          DOI: 10.1136/jmg.40.11.858

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  3 in total

1.  New evidence confirms that the mitochondrial bottleneck is generated without reduction of mitochondrial DNA content in early primordial germ cells of mice.

Authors:  Liqin Cao; Hiroshi Shitara; Michihiko Sugimoto; Jun-Ichi Hayashi; Kuniya Abe; Hiromichi Yonekawa
Journal:  PLoS Genet       Date:  2009-12-04       Impact factor: 5.917

2.  Deletion-mutant mtDNA increases in somatic tissues but decreases in female germ cells with age.

Authors:  Akitsugu Sato; Kazuto Nakada; Hiroshi Shitara; Atsuko Kasahara; Hiromichi Yonekawa; Jun-Ichi Hayashi
Journal:  Genetics       Date:  2007-12       Impact factor: 4.562

3.  Early-onset ophthalmoplegia, cervical dyskinesia, and lower extremity weakness due to partial deletion of chromosome 16: A case report.

Authors:  Min Xu; Jiao Jiang; Yan He; Wei-Yue Gu; Bo Jin
Journal:  World J Clin Cases       Date:  2022-09-16       Impact factor: 1.534

  3 in total

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