Exclusive affection of the brain in m.4450G>A carriers rather suggests Leigh syndrome than MELAS

Brain Dev. 2019 Sep;41(8):741. doi: 10.1016/j.braindev.2019.03.011. Epub 2019 Apr 2.
No abstract available

Keywords: Epilepsy; Genotype; Leigh syndrome; MELAS; Mitochondrial; Phenotype; Respiratory chain; mtDNA.

Publication types

  • Letter

MeSH terms

  • Brain / metabolism
  • Child
  • DNA, Mitochondrial / genetics
  • Female
  • Humans
  • Leigh Disease / diagnosis*
  • Leigh Disease / genetics*
  • MELAS Syndrome / diagnosis
  • MELAS Syndrome / genetics*
  • Mutation

Substances

  • DNA, Mitochondrial