Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene

Carmela Scuderi, Eugenia Borgione, Sebastiano Musumeci, Maurizio Elia, Filippa Castello, Marco Fichera, Guido Davidzon, Salvatore DiMauro

Research output: Contribution to journalArticlepeer-review

Abstract

We report a patient with severe encephalomyopathy and homoplasmic A5814G point mutation in the mitochondrial DNA tRNA gene for cysteine. This mutation had been reported in heteroplasmic condition in patients with different clinical phenotypes. Our results confirm the pathogenicity of the mutation and support the concept that homoplasmic mutations in tRNA genes can be responsible for mitochondrial disorders with variable penetrance. This report also extends the clinical spectrum associated with the A5814G mutation.

Original languageEnglish
Pages (from-to)258-261
Number of pages4
JournalNeuromuscular Disorders
Volume17
Issue number3
DOIs
Publication statusPublished - Mar 2007

Keywords

  • Homoplasmic mutation
  • Mitochondrial DNA
  • Nuclear factors
  • tRNA

ASJC Scopus subject areas

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

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