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- W4368367080 abstract "Desmin is a class III intermediate filament highly expressed in cardiac, smooth and striated muscle Autosomal dominant or recessive mutations in the desmin gene (DES) result in a variety of diseases, including cardiomyopathies and myofibrillar myopathy, collectively called desminopathies. Here we describe the clinical, histological and radiological features of a Greek patient with a myofibrillar myopathy and cardiomyopathy linked to the c.734A>G,p.(Glu245Gly) heterozygous variant in the DES gene. Moreover, through ribonucleic acid sequencing analysis in skeletal muscle we show that this variant provokes a defect in exon 3 splicing and thus should be considered clearly pathogenic" @default.
- W4368367080 created "2023-05-05" @default.
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- W4368367080 date "2023-05-02" @default.
- W4368367080 modified "2023-09-26" @default.
- W4368367080 title "Deep Characterization of a Greek Patient With a Desmin-Related Myofibrillar Myopathy and Cardiomyopathy" @default.
- W4368367080 doi "https://doi.org/10.20944/preprints202305.0074.v1" @default.
- W4368367080 hasPublicationYear "2023" @default.
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