Article

Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, through a Study of an Iranian Family with Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype‒Genotype Correlation Analysis

2024-01-08

Abstract excerpt

<title>Abstract</title> Background Desmin, a crucial intermediate filament in muscle cells, maintains structural integrity in cardiac muscle and provides stability to striated muscle cells. Mutations in the <italic>DES</italic> gene lead to desminopathies, causing diverse cardiac and skeletal myopathies. We examine a new Iranian family with a highly penetrant p.Arg383His variant in the <italic>DES</italic> ge...

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Literature Corpus work: 8be894a6-a2ae-5029-b526-d4926dd39423
DOI: 10.21203/rs.3.rs-3835607/v1

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