A5814G Mutation in Mitochondrial DNA Can Cause Mitochondrial Myopathy and Cardiomyopathy
- 2 July 2001
- journal article
- case report
- Published by SAGE Publications in Journal of Child Neurology
- Vol. 16 (7) , 531-533
- https://doi.org/10.1177/088307380101600715
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 tRNACys 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).Keywords
This publication has 22 references indexed in Scilit:
- Mutations in mtDNA: Are We Scraping the Bottom of the Barrel?Brain Pathology, 2000
- Probing a tRNA core that contributes to aminoacylationJournal of Molecular Biology, 2000
- Psychiatric symptoms in MELAS; a case reportJournal of Neurology, Neurosurgery & Psychiatry, 1998
- The mitochondrial A3243G mutation presenting as severe cardiomyopathy.Journal of Medical Genetics, 1997
- Mitochondrial tRNACys gene mutation (A5814G): a second family with mitochondrial encephalopathyNeuromuscular Disorders, 1997
- A Novel mtDNA Point Mutation in Maternally Inherited CardiomyopathyBiochemical and Biophysical Research Communications, 1995
- A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathyHuman Mutation, 1994
- Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.Journal of Medical Genetics, 1994
- Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)The Lancet, 1991
- Cytochrome c oxidase deficiency in leigh syndromeAnnals of Neurology, 1987