Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection

Desmin‐related myopathy (DRM) is a rare heritable cardiac and skeletal muscle disease caused by mutations in the desmin gene (DES). DRM is generally characterized by skeletal muscle weakness, conduction disturbance, and dilated cardiomyopathy. However, the clinical cardiac phenotypes of DRM are not...

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Detalles Bibliográficos
Autores principales: Tamiya, Ran, Saito, Yuki, Fukamachi, Daisuke, Nagashima, Koichi, Aizawa, Yoshihiro, Ohkubo, Kimie, Hatta, Takumi, Sezai, Akira, Tanaka, Masashi, Ishikawa, Taisuke, Makita, Naomasa, Sumitomo, Naokata, Okumura, Yasuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261580/
https://www.ncbi.nlm.nih.gov/pubmed/32142595
http://dx.doi.org/10.1002/ehf2.12667

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