Thus mutations in CHRNG (which encodes the foetal gamma subunit of the acetylcholine receptor) have been associated with FADS, LMPS and EVMPS and mutations in genes that encode other subunits that make up the foetal acetylcholine receptor (CHRNA1, CHRND) or regulators of AChR function (e.g. RAPSN and DOK7) have been described in FADS/LMPS [8-10]. The gene discussed is RAPSN; the disease is fetal akinesia deformation sequence.