LRP4-Related Congenital Myasthenic Syndrome: Clinical, Pathophysiological, and Therapeutic Aspects
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.
Authors
- Sofia Mônaco Gama (ORCID: https://orcid.org/0000-0001-8635-2338)
- Paulo Victor Sgobbi de Souza (ORCID: https://orcid.org/0000-0002-7416-7108)
- Igor Braga Farias (ORCID: https://orcid.org/0000-0003-2187-6573)
- Daniel Delgado Seneor (ORCID: https://orcid.org/0000-0002-2173-6127)
- Acary Souza Bullé Oliveira (ORCID: https://orcid.org/0000-0002-6986-4937)
- João Paulo Barile (ORCID: https://orcid.org/0009-0009-8578-2788)
- L García (ORCID: https://orcid.org/0000-0002-1968-8031)
- Roberta Ismael Lacerda Machado (ORCID: https://orcid.org/0000-0002-5842-0062)
- Wladimir Bocca Vieira de Rezende Pinto (ORCID: https://orcid.org/0000-0002-0150-525X)
- Paulo de Lima Serrano (ORCID: https://orcid.org/0000-0002-2141-1218)
- Sophia Luiz Calegaretti
- Marcos Vinícius Martins (ORCID: https://orcid.org/0000-0003-0430-1719)
- Renan Brandão Rambaldi Cavalheiro
- Maria Júlia Tabosa de Carvalho Galvão
- Mateus Medeiros Pinheiro
- Felipe Yuji Koyama Azeka (ORCID: https://orcid.org/0009-0009-5550-1797)
- Patrícia Marques Mendes
- Leonardo Mobiglia Guilherme
Institutions
- Universidade Estadual de Maringá (BR)
- Hospital Israelita Albert Einstein (BR)
- Faculdade de Ciências Médicas da Santa Casa de São Paulo (BR)
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Muscles
- Published
- 2026-06-24
- DOI
- https://doi.org/10.3390/muscles5030046
- Primary Topic
- Myasthenia Gravis and Thymoma
- Type
- article
- Field-Weighted Citation Impact
- 0.00