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

Filippo M. Santorelli, Gabriele Siciliano, Carlo Casali, Matthew G. Basirico, Rosalba Carrozzo, Fausta Calvosa, Ferdinando Sartucci, Luca Bonfiglio, Luigi Murri, Salvatore DiMauro

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)156-159
Number of pages4
JournalNeuromuscular Disorders
Volume7
Issue number3
DOIs
Publication statusPublished - May 1997

Keywords

  • Cysteine tRNA
  • Encephalomyopathy
  • mtDNA

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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    Santorelli, F. M., Siciliano, G., Casali, C., Basirico, M. G., Carrozzo, R., Calvosa, F., Sartucci, F., Bonfiglio, L., Murri, L., & DiMauro, S. (1997). Mitochondrial tRNA(Cys) gene mutation (A5814G): A second family with mitochondrial encephalopathy. Neuromuscular Disorders, 7(3), 156-159. https://doi.org/10.1016/S0960-8966(97)00444-6