Of particular interest for this work, in 2014, Dorboz and colleagues reported the case of a Moroccan male child diagnosed with severe dystonia, cerebellar atrophy and dilated cardiomyopathy, who carried a homozygous missense TOR1AIP1 mutation (c.1448A>C) that resulted in the substitution of a highly conserved amino acid in the C-terminal domain of both human LAP1 isoforms (p.E482A). This evidence concerns the gene TOR1AIP1 and Dystonia.