title: A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy.
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.
authors.affiliation: Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA.
authors.forename: C
authors.initials: C
authors.lastname: Karadimas
authors.forename: K
authors.initials: K
authors.lastname: Tanji
authors.forename: M
authors.initials: M
authors.lastname: Geremek
authors.forename: P
authors.initials: P
authors.lastname: Chronopoulou
authors.forename: T
authors.initials: T
authors.lastname: Vu
authors.forename: S
authors.initials: S
authors.lastname: Krishna
authors.forename: C M
authors.initials: CM
authors.lastname: Sue
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: E
authors.initials: E
authors.lastname: Bonilla
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: M
authors.initials: M
authors.lastname: Lipson
authors.forename: R
authors.initials: R
authors.lastname: Bachman
mesh_terms: D000140:Acidosis, Lactic / Q000235:genetics* / Q000473:pathology; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial