[Two new cases of Leigh syndrome caused by mutation m.13513G> A in the MTND5 gene]

Rev Neurol. 2019 Apr 1;68(7):312-314. doi: 10.33588/rn.6807.2018393.
[Article in Spanish]

Abstract

Dos nuevos casos de sindrome de Leigh por mutacion m.13513G>A en el gen MTND5.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Blepharoptosis / genetics
  • DNA, Mitochondrial / genetics*
  • Disease Progression
  • Electron Transport Complex I / genetics*
  • Electron Transport Complex I / physiology
  • Female
  • Fetal Growth Retardation / genetics
  • Gastrointestinal Diseases / genetics
  • Genetic Heterogeneity
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Leigh Disease / genetics*
  • Male
  • Mitochondrial Proteins / genetics*
  • Mitochondrial Proteins / physiology
  • Mutation, Missense*
  • Ophthalmoplegia / genetics
  • Phenotype
  • Point Mutation*
  • Wolff-Parkinson-White Syndrome / genetics

Substances

  • DNA, Mitochondrial
  • Mitochondrial Proteins
  • MT-ND5 protein, human
  • Electron Transport Complex I