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Clinical and molecular analysis of a novel variant responsive to salbutamol monotherapy during COVID-19 outbreak related to congenital and late-onset of myasthenic syndrome in large kindred

2024-05-09

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous disorders. Mutations in the <italic>DOK7</italic> gene underlie CMS with fatigue and muscle weakness, which would worsen with some conventional treatments but show excellent response to special drugs. Here, we applied exome sequencing (ES) to investigate the etiology o...

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Literature Corpus work: bd7cd82c-7422-5abe-8425-be94dcffdcd2
DOI: 10.21203/rs.3.rs-3924937/v1

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Clinical and molecular analysis of a novel variant responsive to salbutamol monotherapy during COVID-19 outbreak related to congenital and late-onset of myasthenic syndrome in large kindredDOI 10.21203/rs.3.rs-3924937/v1Read

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