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Related Experiment Videos

Cardiac mitochondrial dysfunction in Leigh syndrome

J Marin-Garcia1, R Ananthakrishnan, M Korson

  • 1Molecular Cardiology Institute, 75 Raritan Avenue, Highland Park, NJ 08904, U.S.A.

Pediatric Cardiology
|November 1, 1996
PubMed
Summary

This study details an infant with Leigh syndrome and cardiomyopathy, identifying specific mitochondrial defects in muscle tissue. These findings highlight the tissue-specific nature of this genetic disorder.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Leigh syndrome is a severe neurological disorder affecting infants.
  • Cardiomyopathy is a common complication in Leigh syndrome.
  • Mitochondrial dysfunction plays a key role in the pathogenesis of Leigh syndrome.