A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy.
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.
Karadimas
C
C
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA.
Tanji
K
K
Geremek
M
M
Chronopoulou
P
P
Vu
T
T
Krishna
S
S
Sue
C M
CM
Shanske
S
S
Bonilla
E
E
DiMauro
S
S
Lipson
M
M
Bachman
R
R
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
D004272:DNA, Mitochondrial