Phenotypic variability within the desminopathies: A case series of three patients

The DES gene encodes desmin, a key intermediate filament of skeletal, cardiac and smooth muscle. Pathogenic DES variants produce a range of skeletal and cardiac muscle disorders collectively known as the desminopathies. We report three desminopathy cases which highlight the phenotypic heterogeneity...

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Detalles Bibliográficos
Autores principales: Yeow, Dennis, Katz, Matthew, Henderson, Robert, Prasad, Sandhir, Denman, Russell, Blum, Stefan, Davis, Mark, Robertson, Thomas, McCombe, Pamela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9884684/
https://www.ncbi.nlm.nih.gov/pubmed/36726751
http://dx.doi.org/10.3389/fneur.2022.1110934

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9884684/
https://www.ncbi.nlm.nih.gov/pubmed/36726751
http://dx.doi.org/10.3389/fneur.2022.1110934

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