Disease
Acetylcholine receptor deficiency
Overview

Contributor: Gordon K. Klintworth
Acetylcholine receptor deficiency (congenital myasthenic syndrome type Id)  is a specific subtype of  congenital myasthenic syndrome affecting neuromuscular transmission caused by an acetylcholine receptor deficiency. This congenital syndrome  has an autosomal recessive mode of inheritance. The condition is characterized by weakness and abnormal fatigability on exertion.