Article
Mutations in RARS cause hypomyelination.
Annals of neurology - 1 Jul 2014
Wolf Nicole I, Salomons Gajja S, Rodenburg Richard J, Pouwels Petra J W, Schieving Jolanda H, Derks Terry G J, Fock Johanna M, Rump Patrick, van Beek Daphne M, van der Knaap Marjo S, Waisfisz Quinten
Abstract excerpt
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...
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