LRP4-Related Congenital Myasthenic Syndrome: Clinical, Pathophysiological, and Therapeutic Aspects
Year: 2026
Type: article
Abstract: Congenital Myasthenic Syndrome represents a complex and heterogeneous group of inherited neuromuscular disorders, which result from variants in genes involved in different pathophysiological mechanisms related to the neuromuscular junction. LRP4 (Low-density lipoprotein receptor-related protein 4) represents one of the most important proteins involved in this complex signaling pathway, acting in a complex with agrin and Muscle Skeletal Receptor Tyrosine Kinase (MuSK) proteins. LRP4 became known to most neurologists due to the description of anti-LRP4 antibody-related Myasthenia Gravis. There are, however, different neurological and neuromuscular disorders that result from pathogenic variants in LRP4 gene, especially a rare and potentially treatable Congenital Myasthenic Syndrome. The authors performed a detailed narrative review, including descriptions of the main pathophysiological, clinical, and therapeutic aspects of LRP4-related Congenital Myasthenic Syndromes.
Source: Muscles
Authors: Felipe Yuji Koyama Azeka, Paulo de Lima Serrano, Daniel Delgado Seneor, Sophia Luiz Calegaretti, Mateus Medeiros Pinheiro, Marcos Vinícius Martins, Leonardo Mobiglia Guilherme, João Paulo Barile, Patrícia Marques Mendes, Lucas Henrique de Moura Rogério Garcia, Maria Júlia Tabosa de Carvalho Galvão, Sofia Mônaco Gama, Renan Brandão Rambaldi Cavalheiro, Igor Braga Farias, Roberta Ismael Lacerda Machado, Wladimir Bocca Vieira De Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Sgobbi
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,207
OpenAlex ID: W7165954500