Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome

We report a novel cardiomyopathy associated to Usher syndrome and related to combined mutation of MYO7A and Calreticulin genes. A 37‐year‐old man with deafness and vision impairment because of retinitis pigmentosa since childhood and a MYO7A gene mutation suggesting Usher syndrome, developed a dilat...

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Detalles Bibliográficos
Autores principales: Frustaci, Andrea, De Luca, Alessandro, Galea, Nicola, Verardo, Romina, Guida, Valentina, Carrozzo, Rosalba, Chimenti, Cristina, Frustaci, Emanuela, Sansone, Luigi, Russo, Matteo Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8120391/
https://www.ncbi.nlm.nih.gov/pubmed/33835720
http://dx.doi.org/10.1002/ehf2.13260

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