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 journalArticlepeer-review


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
Issue number3
Publication statusPublished - May 1997


  • Cysteine tRNA
  • Encephalomyopathy
  • mtDNA

ASJC Scopus subject areas

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


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