Article

Functional Characterization of a Novel Genetic Variant in Desmin (p.Glu353dup) Causing Myofibrillar Myopathy and Generation of Patient-Derived Induced Pluripotent Stem Cells for Disease Modeling

2023-12-28

Abstract excerpt

Desmin (DES) is a major intermediate filament protein crucial for the structural integrity and function of striated muscles. Mutations in DES have been associated with various forms of myopathies collectively known as "desminopathy." In this study, we identified a novel heterozygous mutation (c.1059_1061dupGGA) in exon 6 of DES in an Argentine family with myofibrillar myopathy. This mutation leads to the duplicati...

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Literature Corpus work: 91c15d72-3515-57b0-84ab-3846b100ddad
DOI: 10.21203/rs.3.rs-3805874/v1

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