Santorelli F M, Siciliano G, Casali C, Basirico M G, Carrozzo R, Calvosa F, Sartucci F, Bonfiglio L, Murri L, DiMauro S
Department of Neurology, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University, New York, NY 10032, USA.
Neuromuscul Disord. 1997 May;7(3):156-9. doi: 10.1016/s0960-8966(97)00444-6.
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.
