Cargando…
A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations
BACKGROUND: PRKAG2 is a rare autosomal dominant syndrome that mainly presents with hypertrophic cardiomyopathy, ventricular preexcitation, and conduction abnormalities. This case report demonstrates that the PRKAG2 mutation presents with various phenotypes already in pediatric patients. CASE SUMMARY...
Autores principales: | Sri, Anita, Daubeney, Piers, Prasad, Sanjay, Baksi, John, Kinali, Maria, Voges, Inga |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458885/ https://www.ncbi.nlm.nih.gov/pubmed/31049239 http://dx.doi.org/10.1155/2019/7640140 |
Ejemplares similares
-
Cardiac manifestations of PRKAG2 mutation
por: Banankhah, Pooya, et al.
Publicado: (2018) -
Out-of-hospital cardiac arrest and survival in a patient with Noonan syndrome and multiple lentigines: a case report
por: Eichhorn, Christian, et al.
Publicado: (2019) -
A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation
por: Yang, Kun-Qi, et al.
Publicado: (2017) -
PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis
por: Aggarwal, Varun, et al.
Publicado: (2015) -
Cardiomiopatia PRKAG2
por: Sternick, Eduardo Back
Publicado: (2022)