Deep Characterization of a Greek Patient With a Desmin-Related Myoﬁbrillar Myopathy and Cardiomyopathy

Constantinos Papadopoulos; Edoardo Malfatti; Corinne Metay; Boris Keren; Elodie Lejeune; Julien Buratti; Sophia Xirou; Margarita Chrysanthou-Piterou; George K Papadimas

doi:10.20944/preprints202305.0074.v1

A peer-reviewed article of this Preprint also exists.

Papadopoulos, C.; Malfatti, E.; Métay, C.; Keren, B.; Lejeune, E.; Buratti, J.; Xirou, S.; Chrysanthou-Piterou, M.; Papadimas, G.K. Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy. Int. J. Mol. Sci. 2023, 24, 11181. Papadopoulos, C.; Malfatti, E.; Métay, C.; Keren, B.; Lejeune, E.; Buratti, J.; Xirou, S.; Chrysanthou-Piterou, M.; Papadimas, G.K. Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy. Int. J. Mol. Sci. 2023, 24, 11181.

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

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Deep Characterization of a Greek Patient With a Desmin-Related Myoﬁbrillar Myopathy and Cardiomyopathy

Abstract

Keywords

Subject

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