Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia

Yo‐Ichi ‐I Takei, Shu‐Ichi ‐I Ikeda, Nobuo Yanagisawa, Wataru Takahashi, Morie Sekiguchi, Tetsuya Hayashi

研究成果: ジャーナルへの寄稿記事

19 引用 (Scopus)

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Deletions of muscle mitochondrial DNA are known in mitochondrial myopathy patients who have chronic progressive external ophthalmoplegia (CPEO). A 41‐year‐old patient with no apparent family history of this condition suffers from hypertrophic cardiomyopathy, slight muscle atrophy, and weakness of the extremities, but not from CPEO. A muscle biopsy showed the presence of ragged‐red fibers, and Southern blot analysis disclosed multiple deletions of muscle mitochondrial DNA. This combination of clinical features in our patient is atypical in mitochondrial myopathy with demonstrable deleted muscle mitochondrial DNA. Pleomorphic clinical expression is suggested. © John Wiley & Sons, Inc.

元の言語英語
ページ(範囲)1321-1325
ページ数5
ジャーナルMuscle and Nerve
18
発行部数11
DOI
出版物ステータス出版済み - 1995
外部発表Yes

    フィンガープリント

All Science Journal Classification (ASJC) codes

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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