Cardiomyopathy as presenting sign of glycogenin-1 deficiency—report of three cases and review of the literature

We describe a new type of cardiomyopathy caused by a mutation in the glycogenin-1 gene (GYG1). Three unrelated male patients aged 34 to 52 years with cardiomyopathy and abnormal glycogen storage on endomyocardial biopsy were homozygous for the missense mutation p.Asp102His in GYG1. The mutated glyco...

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Detalles Bibliográficos
Autores principales: Hedberg-Oldfors, Carola, Glamuzina, Emma, Ruygrok, Peter, Anderson, Lisa J., Elliott, Perry, Watkinson, Oliver, Occleshaw, Chris, Abernathy, Malcolm, Turner, Clinton, Kingston, Nicola, Murphy, Elaine, Oldfors, Anders
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203857/
https://www.ncbi.nlm.nih.gov/pubmed/27718144
http://dx.doi.org/10.1007/s10545-016-9978-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203857/
https://www.ncbi.nlm.nih.gov/pubmed/27718144
http://dx.doi.org/10.1007/s10545-016-9978-1

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