Article
A mitochondrial DNA mutation cosegregates with the pathophysiological U wave.
Biochemical and biophysical research communications - 2 Apr 1999
Matsuoka R, Furutani M, Hayashi J, Isobe K, Akimoto K, Shibata T, Imamura S, Tatsuguchi M, Furutani Y, Takao A, Ohnishi S, Kasanuki H, Momma K
Abstract excerpt
In a family with long QT syndrome (LQT2), some individuals who did not harbor the HERG mutation had a prolonged QTU interval on electrocardiograms after exercise. It may be determined or modified by other gene(s) or factor(s). The sequence analysis of mtDNA in these individuals of this family showed a candidate pathogenic mutation at 3394 in the ND1 gene. The cybrids (mutation at 3394) showed significantly...
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