We report an Italian family with maternally inherited encephalomyopathy including progressive external ophthalmoplegia, 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 three less severely affected maternal relatives. This observation confirms pathogenicity for the A5814G mutation. (C) 1997 Elsevier Science B.V.
Mitochondrial tRNA(Cys) gene mutation (A5814G): A second family with mitochondrial encephalopathy / F. M., S., G., S., Casali, C., M. G., B., R., C., F., C., F., S., L., B., L., M., S., D.. - In: NEUROMUSCULAR DISORDERS. - ISSN 0960-8966. - 7:3(1997), pp. 156-159. [10.1016/s0960-8966(97)00444-6]
Mitochondrial tRNA(Cys) gene mutation (A5814G): A second family with mitochondrial encephalopathy
CASALI, Carlo;
1997
Abstract
We report an Italian family with maternally inherited encephalomyopathy including progressive external ophthalmoplegia, 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 three less severely affected maternal relatives. This observation confirms pathogenicity for the A5814G mutation. (C) 1997 Elsevier Science B.V.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
