EPRS leukoencephalopathy

Evidence-based neurology checklist on eprs leukoencephalopathy: Genetics This is caused by mutations in the EPRS gene The gene encodes glutamyl-prolyl-aminoacyl-tRNA synthetase Clinical features Magnetic resonance imaging (MRI) brain: features

Genetics

  • This is caused by mutations in the EPRS gene
  • The gene encodes glutamyl-prolyl-aminoacyl-tRNA synthetase

Clinical features

Magnetic resonance imaging (MRI) brain: features

References

  1. Mendes MI, Gutierrez Salazar M, Guerrero K, et al. Bi-allelic mutations in EPRS, encoding the glutamyl-prolyl-aminoacyl-tRNA synthetase, cause a hypomyelinating leukodystrophy. Am J Hum Genet 2018; 102:676-684.

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