FMR1 and fragile X-associated tremor/ataxia syndrome: Mutations in RBPs have also been directly linked to a variety of inherited human diseases, which includes orphan diseases [6], such as mutations in fragile X mental retardation protein (FMRP) leading to fragile X-associated tremor/ataxia syndrome (FXTAS) [10], and muscleblind-like 1 (MBNL1) in myotonic dystrophy type 1 [11].