In:
International Journal of Molecular Sciences, MDPI AG, Vol. 24, No. 13 ( 2023-07-06), p. 11181-
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.
Type of Medium:
Online Resource
ISSN:
1422-0067
DOI:
10.3390/ijms241311181
Language:
English
Publisher:
MDPI AG
Publication Date:
2023
detail.hit.zdb_id:
2019364-6
SSG:
12
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