The symptoms seen in genetic myasthenic syndromes are caused by genetic mutations that result in _______ activity and _______ at the at the neuromuscular junction.

Question

Quizplus · Accepted Answer

Genetic mutations in myasthenic syndromes usually result in lowered activity of choline acetyltransferase (ChAT), the enzyme responsible for synthesizing acetylcholine (ACh), and/or insufficient release of ACh at the neuromuscular junction. This leads to muscle weakness and other symptoms. Choices A, C, and D are incorrect because they involve different neurotransmitters and pathways not involved in myasthenic syndromes.

The Symptoms Seen in Genetic Myasthenic Syndromes Are Caused by Genetic