Griscelli syndrome Type 1 (GS1; MIN 214450) is a rare autosomal recessive disease caused by mutations in the MYO5A gene. 1 The syndrome was first reported in 1978, 2 and since then, three subtypes have been identified according to the phenotype and gene involved. In addition to the shared common feature of
harboring MAP2K1 mutations, it is not a cure. Therefore, combined medical and surgical interventions may be necessary to treat complex AVM to maximize clinical benefit. Well-controlled, large-scale studies are needed to determine the optimal dosing, duration, long-term safety, and efficacy of this treatment.
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