LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17

• Published in: European journal of medical genetics Vol. 67; p. 104903
• Main Authors: Al Jabry, Tariq, Al-Hashmi, Nadia, Abdelhadi, Basem, Al-Maawali, Almundher
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01.02.2024
• Subjects: Acetylcholine receptors; Agrin; CMS17; Congenital myasthenic syndromes; Female; Humans; Hyperostosis; Infant, Newborn; LDL-Receptor Related Proteins - genetics; LRP4; Male; Myasthenic Syndromes, Congenital - genetics; Neuromuscular Junction; Syndactyly - genetics; Congenital myasthenic syndromes; LRP4; CMS17; Agrin; Neuromuscular junction; Acetylcholine receptors

LRP4 is expressed in many organs. It mediates SOST-dependent inhibition of bone formation and acts as an inhibitor of WNT signaling. It is also a postsynaptic end plate cell surface receptor at the neuromuscular junction and is central to its development, maintenance, and function. Pathogenic varian...