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

Article Abstract:

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.

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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

Article Abstract:

The pathway mutations associated with the acetylcholine receptor (AChR) are studied to explain the various fetal akinesia deformation sequence (FADs) disorders. Severe alterations in the AChR lead to lethal multiple pterygium syndrome, whereas minor changes lead to fetal hypokinesia.

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Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia

Article Abstract:

A study on Lebanese Muslim family who were affected with odonto-onycho-dermal dysplasia was conducted. Result show an ectodermal dysplasia caused by an altered WNT signaling pathway.

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