Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy - Sorbonne Université Access content directly
Journal Articles International Journal of Molecular Sciences Year : 2023

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

Constantinos Papadopoulos
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  • PersonId : 1302934
Edoardo Malfatti
Corinne Métay
Boris Keren
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Julien Buratti
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Sophia Xirou
Margarita Chrysanthou-Piterou
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  • PersonId : 1302938
George K Papadimas

Abstract

Desmin is a class III intermediate filament protein 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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Dates and versions

hal-04269211 , version 1 (03-11-2023)

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Constantinos Papadopoulos, Edoardo Malfatti, Corinne Métay, Boris Keren, Elodie Lejeune, et al.. Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy. International Journal of Molecular Sciences, 2023, 24 (13), pp.11181. ⟨10.3390/ijms241311181⟩. ⟨hal-04269211⟩
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