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A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy
C Karadimas1, K Tanji, M Geremek
1Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA.
Journal of Child Neurology
|July 17, 2001
Abstract:
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.