Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. uri icon

Overview

abstract

  • We studied a large family with a dominantly inherited mitochondrial myopathy characterized by progressive external ophthalmoplegia, dysphagia, cataract, lactic acidosis, exercise intolerance, and early death. Morphologic studies of muscle biopsies suggested mitochondrial heteroplasmy and revealed ragged-red fibers and decreased histochemical reactions for cytochrome c oxidase and succinate dehydrogenase. Biochemistry showed a partial defect of cytochrome c oxidase and a mild generalized reduction of other mitochondrial enzymes requiring mitochondrial DNA-encoded subunits. Southern blot analysis and PCR amplification showed mitochondrial DNA deletions in muscle of all affected members, but not in lymphocytes or fibroblasts, suggesting a tissue-specific distribution. Deletions were multiple and seemed to increase with time and to correlate with the severity of the disease.

publication date

  • July 1, 1991

Research

keywords

  • Chromosome Deletion
  • DNA, Mitochondrial
  • Genes, Dominant
  • Mitochondria, Muscle
  • Muscular Diseases

Identity

Scopus Document Identifier

  • 0026002054

Digital Object Identifier (DOI)

  • 10.1212/wnl.41.7.1053

PubMed ID

  • 2067633

Additional Document Info

volume

  • 41

issue

  • 7