Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy

Dylan A. Mordaunt, Liam C. McIntyre, Hayley Salvemini, Afdal Ibrahim, Drago Bratkovic, David Ketteridge, Hamish S. Scott, Karin S. Kassahn, Nicholas Smith

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


The Mitochondrial tRNALeu (MT-TL1) mutation, m.3243A>G constitutes the commonest identified mitochondrial genome mutation. Characteristically, giving rise to MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes), a phenotypic spectrum associated with this genetic variant is now apparent. We report on the first patient with infantile hemiparesis, without comorbid encephalopathy, attributed to this variant. This further expands the recognized disease spectrum and highlights the need to consider mitochondrial genomic mutations in cases of cryptogenic focal neurological deficit in infancy. The potential for genetic disease modifiers is additionally discussed.

Original languageEnglish
Pages (from-to)2697-2701
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
Publication statusPublished - Nov 2015
Externally publishedYes


  • 7q36.3 duplication
  • Hemiparesis
  • M.3243A>G
  • Maternally inherited diabetes and deafness (MIDD)
  • NCAPG2
  • PTPRN2


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