Article
AGRN-, LRP4-, MUSK-Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms.
Muscle & nerve - 1 Sept 2026
Villar-Quiles Rocio-Nur, Sternberg Damien, Nougues Marie-Christine, Isapof Arnaud, Eymard Bruno, Bauché Stéphanie
Abstract excerpt
Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular transmission. Among these, CMS due to mutations in AGRN, LRP4, and MUSK...
Read the complete abstract on PubMedTopics
- Humans
- Myasthenic Syndromes, Congenital
- LDL-Receptor Related Proteins
- Receptors, Cholinergic
- Animals
- Receptor Protein-Tyrosine Kinases