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Cytoplasmic body and mitochondrial DNA deletion

Sahashi, K ; Ohno, K ; Tanaka, M ; Ibi, T ; Yamamoto, T ; Tashiro, M ; Sato, W ; Takahashi, A ; Ozawa, T

Journal of the neurological sciences, November 1990, Vol.99(2-3), pp.291-300 [Tạp chí có phản biện]

ISSN: 0022-510X ; PMID: 1964959 Version:1

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  • Nhan đề:
    Cytoplasmic body and mitochondrial DNA deletion
  • Tác giả: Sahashi, K ; Ohno, K ; Tanaka, M ; Ibi, T ; Yamamoto, T ; Tashiro, M ; Sato, W ; Takahashi, A ; Ozawa, T
  • Chủ đề: DNA, Mitochondrial -- Genetics ; Inclusion Bodies -- Ultrastructure ; Muscles -- Pathology ; Ophthalmoplegia -- Genetics
  • Là 1 phần của: Journal of the neurological sciences, November 1990, Vol.99(2-3), pp.291-300
  • Mô tả: A patient with chronic progressive external ophthalmoplegia (CPEO) who had abundant cytoplasmic bodies in muscle fibers and a deletion of mitochondrial DNA is reported. The patient was a 26-year-old male suffering from ophthalmoplegia from age 21. He had a marfanoid skeletal abnormality and perceptive hearing loss, but had neither retinopathy, ataxia, nor dementia. In the mitochondria isolated from the biopsied skeletal muscle, NADH-ubiquinone oxidoreductase activity was slightly decreased, succinate-cytochrome c reductase activity was slightly increased, and cytochrome c oxidase activity remained normal. Southern blot analysis of the muscle DNA identified heteroplasmy composed of a normal-sized mitochondrial DNA and a mutant mitochondrial DNA with a 4.2-kilobase deletion. The PCR plus S1 analysis showed that the deletion extended from nucleotide position 7860 +/- 60 to 12,090 +/- 70. The histological studies of the biopsied muscle revealed ragged-red fibers and cytochrome c oxidase-negative...
  • Ngôn ngữ: English
  • Số nhận dạng: ISSN: 0022-510X ; PMID: 1964959 Version:1

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