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.
|Autori:||SANTORELLI FM; SICILIANO G; CASALI C; BASIRICO MG; CARROZZO R; CALVOSA F; SARTUCCI F; BONFIGLIO L; MURRI L; DIMAURO S|
|Titolo:||Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy|
|Anno del prodotto:||1997|
|Appare nelle tipologie:||1.1 Articolo in rivista|