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.

Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy

SICILIANO, GABRIELE;SARTUCCI, FERDINANDO;BONFIGLIO L;MURRI, LUIGI;
1997-01-01

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.
1997
Santorelli, Fm; Siciliano, Gabriele; Casali, C; Basirico, Mg; Carrozzo, R; Calvosa, F; Sartucci, Ferdinando; Bonfiglio, L; Murri, Luigi; Dimauro, S.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/198913
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