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

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20 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 & Nerve
Volume18
Issue number11
DOIs
Publication statusPublished - Nov 1995
Externally publishedYes

All Science Journal Classification (ASJC) codes

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

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