Journal Article

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

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

2023

Overview

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.

• Publisher: MDPI AG,MDPI
• Subject: Biopsy / Cardiomyopathies - metabolism / Cardiomyopathy / Case Report / Desmin - genetics / Desmin - metabolism / Disease / Genetics / Greece / Heart / Heart diseases / Human genetics / Humans / Intermediate filament proteins / Kinases / Legs / Life Sciences / Microscopy / Muscle, Skeletal - metabolism / Muscles / Muscular Diseases - metabolism / Musculoskeletal system / Mutation / Myopathies, Structural, Congenital - metabolism / Pacemakers / Patients / Proteins / RNA