Muscles (Basel, Switzerland) · 2026
LRP4-Related Congenital Myasthenic Syndrome: Clinical, Pathophysiological, and Therapeutic Aspects.
СтатьяОбзорНазвание и аннотация: Перевод в очереди
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Azeka Felipe Yuji Koyama, Serrano Paulo de Lima, Seneor Daniel Delgado, Calegaretti Sophia Luiz, Pinheiro Mateus Medeiros, Martins Marcos Vinícius, Guilherme Leonardo Mobiglia, Barile João Paulo, Mendes Patrícia Marques, Garcia Lucas Henrique de Moura Rogério, Galvão Maria Júlia Tabosa de Carvalho, Gama Sofia Mônaco, Cavalheiro Renan Brandão Rambaldi, Farias Igor Braga, Machado Roberta Ismael Lacerda, Pinto Wladimir Bocca Vieira De Rezende, Oliveira Acary Souza Bulle, Sgobbi Paulo
Аннотация
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.