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• W2046578981 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. (J Child Neurol 2001;16:531-533)." @default.
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• W2046578981 date "2001-07-01" @default.
• W2046578981 modified "2023-09-27" @default.
• W2046578981 title "A5814G Mutation in Mitochondrial DNA Can Cause Mitochondrial Myopathy and Cardiomyopathy" @default.
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• W2046578981 doi "https://doi.org/10.1177/088307380101600715" @default.
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