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

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1321-1325
Number of pages5
JournalMuscle and Nerve
Volume18
Issue number11
DOIs
Publication statusPublished - 1995
Externally publishedYes

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Mitochondrial Myopathies
Ophthalmoplegia
Cardiomyopathies
Mitochondrial DNA
Chronic Progressive External Ophthalmoplegia
Muscles
Muscular Atrophy
Hypertrophic Cardiomyopathy
Muscle Weakness
Southern Blotting
Nuclear Family
Extremities
Biopsy

All Science Journal Classification (ASJC) codes

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

Cite this

Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia. / Takei, Yo‐Ichi ‐I; Ikeda, Shu‐Ichi ‐I; Yanagisawa, Nobuo; Takahashi, Wataru; Sekiguchi, Morie; Hayashi, Tetsuya.

In: Muscle and Nerve, Vol. 18, No. 11, 1995, p. 1321-1325.

Research output: Contribution to journalArticle

Takei, Yo‐Ichi ‐I ; Ikeda, Shu‐Ichi ‐I ; Yanagisawa, Nobuo ; Takahashi, Wataru ; Sekiguchi, Morie ; Hayashi, Tetsuya. / Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia. In: Muscle and Nerve. 1995 ; Vol. 18, No. 11. pp. 1321-1325.
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