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). The gene discussed is TOR1AIP1; the disease is Cerebellar atrophy.