De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis

De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis

Dystrophin (<i>DMD</i>) gene mutations are associated with skeletal muscle diseases such as Duchenne and Becker Muscular Dystrophy (BMD) and X-linked dilated cardiomyopathy (XL-DCM). To investigate the molecular basis of DCM in a 37-year-old woman. Clinical and genetic investigations wer...

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Bibliographic Details
Main Authors: Maria d’Apolito, Alessandra Ranaldi, Francesco Santoro, Sara Cannito, Matteo Gravina, Rosa Santacroce, Ilaria Ragnatela, Alessandra Margaglione, Giovanna D’Andrea, Grazia Casavecchia, Natale Daniele Brunetti, Maurizio Margaglione
Format: Article
Language:English
Published: MDPI AG 2024-02-01
Series:International Journal of Molecular Sciences
Subjects:
DMD
dystrophin (DMD)
dilated cardiomyopathy (DCM)
skeletal muscle
dystrophy
Online Access:https://www.mdpi.com/1422-0067/25/5/2787

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https://www.mdpi.com/1422-0067/25/5/2787

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