Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.
Constantinos PapadopoulosEdoardo MalfattiCorinne MétayBoris KerenElodie LejeuneJulien BurattiSophia XirouMargarita Chrysanthou-PiterouGiorgos-Konstantinos PapadimasPublished in: International journal of molecular sciences (2023)
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.
Keyphrases
- skeletal muscle
- late onset
- muscular dystrophy
- case report
- heart failure
- copy number
- early onset
- genome wide
- genome wide identification
- left ventricular
- intellectual disability
- small molecule
- metabolic syndrome
- myasthenia gravis
- amino acid
- autism spectrum disorder
- genome wide analysis
- drug induced
- duchenne muscular dystrophy