Reverse phenotyping to further define a new mitochondrial depletion syndrome caused by an ISCA2 mutation: Commentary on: Alfadhel et al. Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases

Eur J Paediatr Neurol. 2018 Jan;22(1):4-5. doi: 10.1016/j.ejpn.2017.12.011. Epub 2017 Dec 21.
No abstract available

Publication types

  • Editorial
  • Comment

MeSH terms

  • DNA, Mitochondrial
  • Humans
  • Mutation*
  • Phenotype*
  • Syndrome

Substances

  • DNA, Mitochondrial