Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy
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 (<i>DES</i>) result in a variety of diseases, including cardiomyopathies and myofibrillar myopathy, collectively calle...
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MDPI AG
2023-07-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/13/11181 |
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| author | Constantinos Papadopoulos Edoardo Malfatti Corinne Métay Boris Keren Elodie Lejeune Julien Buratti Sophia Xirou Margarita Chrysanthou-Piterou George K. Papadimas |
| author_facet | Constantinos Papadopoulos Edoardo Malfatti Corinne Métay Boris Keren Elodie Lejeune Julien Buratti Sophia Xirou Margarita Chrysanthou-Piterou George K. Papadimas |
| author_sort | Constantinos Papadopoulos |
| collection | DOAJ |
| description | 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 (<i>DES</i>) 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 <i>DES</i> 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. |
| first_indexed | 2024-03-11T01:38:25Z |
| format | Article |
| id | doaj.art-c18812ced03448fd9dc6f41ce21768e9 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-11T01:38:25Z |
| publishDate | 2023-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-c18812ced03448fd9dc6f41ce21768e92023-11-18T16:49:19ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-07-0124131118110.3390/ijms241311181Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and CardiomyopathyConstantinos Papadopoulos0Edoardo Malfatti1Corinne Métay2Boris Keren3Elodie Lejeune4Julien Buratti5Sophia Xirou6Margarita Chrysanthou-Piterou7George K. Papadimas8First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, GreeceCentre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Université Paris Est, U955 INSERM, EnvA, EFS, IMRB, F-94010 and APHP, Henri Mondor Hospital, 94010 Créteil, FranceAPHP, Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Centre de Génétique Moléculaire et Chromosomique, INSERM, Institut de Myologie, Groupe Hospitalier La Pitié-Salpêtrière-Charles Foix, Sorbonne Université, 75013 Paris, FranceAPHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, FranceAPHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, FranceAPHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, FranceFirst Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, GreeceFirst Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, GreeceFirst Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, GreeceDesmin is a class III intermediate filament protein highly expressed in cardiac, smooth and striated muscle. Autosomal dominant or recessive mutations in the desmin gene (<i>DES</i>) 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 <i>DES</i> 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.https://www.mdpi.com/1422-0067/24/13/11181desminmyofibrillar myopathycardiomyopathyribonucleic acid sequencing |
| spellingShingle | Constantinos Papadopoulos Edoardo Malfatti Corinne Métay Boris Keren Elodie Lejeune Julien Buratti Sophia Xirou Margarita Chrysanthou-Piterou George K. Papadimas Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy International Journal of Molecular Sciences desmin myofibrillar myopathy cardiomyopathy ribonucleic acid sequencing |
| title | Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy |
| title_full | Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy |
| title_fullStr | Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy |
| title_full_unstemmed | Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy |
| title_short | Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy |
| title_sort | deep characterization of a greek patient with desmin related myofibrillar myopathy and cardiomyopathy |
| topic | desmin myofibrillar myopathy cardiomyopathy ribonucleic acid sequencing |
| url | https://www.mdpi.com/1422-0067/24/13/11181 |
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