Publications by authors named "Jaime N Young"
Article Synopsis
- Congenital Myasthenic Syndromes (CMS) are rare genetic disorders that result in muscle weakness due to problems with neuromuscular transmission, particularly caused by issues in acetylcholine synthesis, leading to life-threatening breathing problems.
- Two male patients diagnosed with CHT1-CMS exhibited symptoms like apnea, weakness, and developmental delays; treatment with pyridostigmine only partially helped their condition.
- This report highlights the serious impacts of CMS associated with the SLC5A7 gene mutations, particularly with episodes of apnea and potential central nervous system complications, and notes a lack of documented cases in Latin America.
The enzyme choline acetyltransferase (ChAT) synthesizes acetylcholine from acetyl-CoA and choline at the neuromuscular junction and at the nerve terminals of cholinergic neurons. Mutations in the ChAT gene () result in a presynaptic congenital myasthenic syndrome (CMS) that often associates with life-threatening episodes of apnea. Knockout mice for die at birth.
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