Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy.


A patient with mitochondrial encephalomyopathy who died from progressive intractable cardiac failure at the age of 18 is reported. At the age of 4, he presented with short stature, but multiorgan disorders including deafness, focal glomerulosclerosis, epilepsy and dilated cardiomyopathy appeared later in his clinical course. Laboratory tests showed… (More)


Cite this paper

@article{Taniike1992MitochondrialTM, title={Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy.}, author={Masako Taniike and Hisashi Fukushima and Itaru Yanagihara and H. Tsukamoto and J. Tanaka and Hiroyuki Fujimura and T Nagai and T. Sano and K. Yamaoka and Ken-ichi Inui}, journal={Biochemical and biophysical research communications}, year={1992}, volume={186 1}, pages={47-53} }