Document Detail

Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder.
MedLine Citation:
PMID:  8092186     Owner:  NLM     Status:  MEDLINE    
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.
J L Van Hove; S Shanske; F Ciacci; S Ballinger; J S Shoffner; D C Wallace; T Hanioka; K Folkers; E H Bossen; P S Kussin
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  51     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1994 Jun 
Date Detail:
Created Date:  1994-10-18     Completed Date:  1994-10-18     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  114-20     Citation Subset:  IM    
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.
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MeSH Terms
Acidosis, Lactic / pathology*
Age of Onset
Anemia / pathology*
Bone Marrow / ultrastructure
Brain / ultrastructure
Cardiomyopathies / pathology*
Chronic Disease
Mitochondria, Heart / pathology
Mitochondria, Muscle / pathology
Mitochondrial Myopathies / pathology*

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