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A5814G Mutation in Mitochondrial DNA Can Cause Mitochondrial Myopathy and Cardiomyopathy

Department of Neurology Columbia University College of Physicians and Surgeons New York, New York

Kurenai Tanji, MD

Department of Neurology Columbia University College of Physicians and Surgeons New York, New York

Maciej Geremek, BS

Department of Neurology Columbia University College of Physicians and Surgeons New York, New York

Penelope Chronopoulou, PhD

Department of Neurology Columbia University College of Physicians and Surgeons New York, New York

Tuan Vu, MD

Department of Neurology Columbia University College of Physicians and Surgeons New York, New York

Sindu Krishna, PhD

Department of Neurology Columbia University College of Physicians and Surgeons New York, New York

Carolyn M. Sue, MD, PhD

Department of Neurology Columbia University College of Physicians and Surgeons New York, New York

Sara Shanske, PhD

Department of Neurology Columbia University College of Physicians and Surgeons New York, New York

Eduardo Bonilla, MD

Department of Neurology Columbia University College of Physicians and Surgeons New York, New York

Salvatore DiMauro, MD

Department of Neurology Columbia University College of Physicians and Surgeons New York, New York

Mark Lipson, MD

The Permanente Medical Group Inc Oakland, California

Ronald Bachman, MD

The Permanente Medical Group Inc Oakland, California

We describe a 5-year-old child with hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis. Mitochondrial DNA analysis showed a heteroplasmic A5814G point mutation in the tRNA^Cys gene. The mutational load was extremely high (>95%) in muscle, fibroblasts, and blood. This report expands the clinical heterogeneity of the A5814G mutation, which should be considered in the differential diagnosis of hypertrophic cardiomyopathy in childhood. (J Child Neurol 2001;16:531-533).

Journal of Child Neurology, Vol. 16, No. 7, 531-533 (2001)
DOI: 10.1177/088307380101600715


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