Mitochondrial tRNACys gene mutation (A5814G): a second family with mitochondrial encephalopathy
FM Santorelli, G Siciliano, C Casali, MG Basirico… - Neuromuscular …, 1997 - Elsevier
We report an Italian family with maternally inherited encephalomyopathy including
progressive external pphthalmoplegia, seizures, and neurophysiological evidence of
brainstem dysfunction. Mitochondrial DNA analysis showed a heteroplasmic point mutation
at position 5814 in the tRNA gene for cysteine (A5814G), previously reported in a 5-year-old
girl of Portuguese origin. The mutation was very abundant (> 95%) in both muscle and blood
from the proposita and was present in lower proportions (average 85±6%) in blood from …
progressive external pphthalmoplegia, seizures, and neurophysiological evidence of
brainstem dysfunction. Mitochondrial DNA analysis showed a heteroplasmic point mutation
at position 5814 in the tRNA gene for cysteine (A5814G), previously reported in a 5-year-old
girl of Portuguese origin. The mutation was very abundant (> 95%) in both muscle and blood
from the proposita and was present in lower proportions (average 85±6%) in blood from …
