Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome

J Pediatr. 1993 Oct;123(4):598-602. doi: 10.1016/s0022-3476(05)80962-x.


We describe a family in which the mother has progressive external ophthalmoplegia with the common 4977 base pair deletion, and her son has a syndrome similar to the Pearson marrow-pancreas syndrome with the identical deletion. This case extends the clinical phenotype of the Pearson syndrome and raises the possibility that developmentally regulated tissue-specific nuclear factors are responsible for the differential phenotypic expression of these two mitochondrial disorders.

MeSH terms

  • Adult
  • Anemia, Sideroblastic / genetics*
  • Base Composition / genetics
  • Blotting, Southern
  • DNA, Mitochondrial / genetics*
  • Exocrine Pancreatic Insufficiency / genetics*
  • Female
  • Humans
  • Infant
  • Male
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Polymerase Chain Reaction
  • Sequence Deletion / genetics*
  • Syndrome


  • DNA, Mitochondrial