Mutations in RARS cause hypomyelination.

  title={Mutations in RARS cause hypomyelination.},
  author={Nicole I Wolf and Gajja Sophi Salomons and Richard J T Rodenburg and Petra J. W. Pouwels and Jolanda H Schieving and Terry G J Derks and Johanna Maria Fock and Patrick Rump and Daphne M van Beek and Marjo S. van der Knaap and Quinten Waisfisz},
  journal={Annals of neurology},
  volume={76 1},
Hypomyelinating disorders of the central nervous system are still a diagnostic challenge, as many patients remain without genetic diagnosis. Using magnetic resonance imaging (MRI) pattern recognition and whole exome sequencing, we could ascertain compound heterozygous mutations in RARS in 4 patients with hypomyelination. Clinical features included severe spasticity and nystagmus. RARS encodes the cytoplasmic arginyl-tRNA synthetase, an enzyme essential for RNA translation. This protein is among… CONTINUE READING


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