Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: A distinct late onset mitochondrial disorder

Academic Article


  • A 40-year-old woman presented with profound muscle weakness resulting in failure to wean from a ventilator and persistent lactic acidosis after having recovered from a pneumonia complicated by adult respiratory distress syndrome, myocardial infarction, renal failure and shock. She had a 28 year history of chronic anemia and exercise intolerance. Anemia and thrombocytopenia persisted after admission. Nonobstructive hypertrophic cardiomyopathy was present. A stroke-like episode occurred. A mitochondrial myopathy with deficiencies in complexes IV and II was demonstrated, but no DNA defect has yet been found. This patient represents a distinct clinical presentation of a mitochondrial disorder characterized by late onset mitochondrial myopathy, chronic anemia, cardiomyopathy, and lactic acidosis.
  • Digital Object Identifier (doi)

    Author List

  • Van Hove JLK; Shanske S; Ciacci F; Ballinger S; Shoffner JS; Wallace DC; Hanioka T; Folkers K; Bossen EH; Kussin PS
  • Start Page

  • 114
  • End Page

  • 120
  • Volume

  • 51
  • Issue

  • 2