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

Journal Article (Journal 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.

Full Text

Duke Authors

Cited Authors

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

Published Date

  • June 1, 1994

Published In

Volume / Issue

  • 51 / 2

Start / End Page

  • 114 - 120

PubMed ID

  • 8092186

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/ajmg.1320510207


  • eng

Conference Location

  • United States