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A missense c.80G＞A mutation in the CAV3 gene in a Han Chinese family with rippling muscle disease

2024-03-15

Abstract excerpt

<title>Abstract</title> <p>Background Rippling muscle disease (RMD), one of the special clinical phenotypes of caveolinopathies, is characterized by muscle hyperexcitability causing by mutations in the <italic>CAV3</italic> gene. Few data exist on muscle MRI in patients with RMD, frequently reported as normal. Methods Here, we describe a Han Chinese family with RMD. Whole exome sequencing (WES), muscle MRI, and...

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Literature Corpus work: 19dc12d4-af6b-57fd-bf8d-6928652b0eb0
DOI: 10.21203/rs.3.rs-4085678/v1

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