Skip to main content
construction release_alert
Images are temporarily unavailable. The scholars team is working with OIT and DHTS to fix the issue.
cancel

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

Publication ,  Journal Article
Van Hove, JL; Shanske, S; Ciacci, F; Ballinger, S; Shoffner, JS; Wallace, DC; Hanioka, T; Folkers, K; Bossen, EH; Kussin, PS
Published in: Am J Med Genet
June 1, 1994

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.

Duke Scholars

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

June 1, 1994

Volume

51

Issue

2

Start / End Page

114 / 120

Location

United States

Related Subject Headings

  • Syndrome
  • Mitochondrial Myopathies
  • Mitochondria, Muscle
  • Mitochondria, Heart
  • Humans
  • Female
  • Chronic Disease
  • Cardiomyopathies
  • Brain
  • Bone Marrow
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Van Hove, J. L., Shanske, S., Ciacci, F., Ballinger, S., Shoffner, J. S., Wallace, D. C., … Kussin, P. S. (1994). Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder. Am J Med Genet, 51(2), 114–120. https://doi.org/10.1002/ajmg.1320510207
Van Hove, J. L., S. Shanske, F. Ciacci, S. Ballinger, J. S. Shoffner, D. C. Wallace, T. Hanioka, K. Folkers, E. H. Bossen, and P. S. Kussin. “Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder.Am J Med Genet 51, no. 2 (June 1, 1994): 114–20. https://doi.org/10.1002/ajmg.1320510207.
Van Hove JL, Shanske S, Ciacci F, Ballinger S, Shoffner JS, Wallace DC, et al. Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder. Am J Med Genet. 1994 Jun 1;51(2):114–20.
Van Hove, J. L., et al. “Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder.Am J Med Genet, vol. 51, no. 2, June 1994, pp. 114–20. Pubmed, doi:10.1002/ajmg.1320510207.
Van Hove JL, Shanske S, Ciacci F, Ballinger S, Shoffner JS, Wallace DC, Hanioka T, Folkers K, Bossen EH, Kussin PS. Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder. Am J Med Genet. 1994 Jun 1;51(2):114–120.

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

June 1, 1994

Volume

51

Issue

2

Start / End Page

114 / 120

Location

United States

Related Subject Headings

  • Syndrome
  • Mitochondrial Myopathies
  • Mitochondria, Muscle
  • Mitochondria, Heart
  • Humans
  • Female
  • Chronic Disease
  • Cardiomyopathies
  • Brain
  • Bone Marrow