A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

@article{Taylor2003AHM,
  title={A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.},
  author={Robert W Taylor and Carla Giordano and Mercy M. Davidson and Giulia d'Amati and H. H. Bain and Christine M. Hayes and Helen Leonard and Martin J. Barron and C Casali and Filippo M. Santorelli and Michio Hirano and Robert N Lightowlers and Salvatore Dimauro and Douglass M. Turnbull},
  journal={Journal of the American College of Cardiology},
  year={2003},
  volume={41 10},
  pages={
          1786-96
        }
}
OBJECTIVES The purpose of this study was to understand the clinical and molecular features of familial hypertrophic cardiomyopathy (HCM) in which a mitochondrial abnormality was strongly suspected. BACKGROUND Defects of the mitochondrial genome are responsible for a heterogeneous group of clinical disorders, including cardiomyopathy. The majority of pathogenic mutations are heteroplasmic, with mutated and wild-type mitochondrial deoxyribonucleic acid (mtDNA) coexisting within the same cell… CONTINUE READING

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Cardiovascular Genetics and Genomics

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Severe obstructive hypertrophic cardiomyopathy occurring secondary to mitochondrial disease.

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