Article

Novel compound missense variants in MUSK impair LRP4-MUSK-DOK7 complex associated with congenital myasthenic syndrome 9 and insights into genotype-phenotype correlation

2023-07-14

Abstract excerpt

<title>Abstract</title><p><bold>Background:</bold>Congenital myasthenic syndromes are a group of rare neuromuscular transmission disorders. The muscle-specific kinase gene MUSK is one of the disease-causing genes.<bold>Method:</bold>Trio whole exome sequencing was performed in a patient family with congenital laryngeal achondroplasia. In vitro experiments in HEK293T cells were performed to evaluate the mutant prot...

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Literature Corpus work: 417f148b-9dee-584c-9660-f6bc94c99fe4
DOI: 10.21203/rs.3.rs-2824737/v1

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