[A patient with Pearson and Kearns-Sayre syndrome and a common 4.9 Kb deletion of mitochondrial DNA in blood]

An Esp Pediatr. 1998 Nov;49(5):510-2.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anemia, Sideroblastic / complications
  • Anemia, Sideroblastic / genetics
  • Atrophy / diagnostic imaging
  • Cerebellar Diseases / diagnostic imaging
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • DNA, Mitochondrial / genetics*
  • Echoencephalography
  • Female
  • Humans
  • Infant
  • Kearns-Sayre Syndrome / complications
  • Kearns-Sayre Syndrome / genetics*
  • Ophthalmoplegia / etiology
  • Ophthalmoplegia / genetics
  • Remission, Spontaneous
  • Syndrome
  • Thrombocytopenia / complications
  • Thrombocytopenia / genetics

Substances

  • DNA, Mitochondrial