Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

Linkage studies are performed in families with Escobar syndrome and eight mutations are identified within the gamma-subunit gene (CHRNG) of the acetylcholine receptor (AChR). The results have shown that Escobar syndrome is an inherited fetal myasthenic disease that also affects neuromuscular organogenesis and as gamma expression is restricted to early development, patients have no myasthenic symptoms later in life.