Publications by authors named "Javier A Muntadas"
BMC Med Genomics
August 2024
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.
