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...

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Publicado en:Case Rep Pediatr
Autores principales: Sri, Anita, Daubeney, Piers, Prasad, Sanjay, Baksi, John, Kinali, Maria, Voges, Inga
Formato: Artigo
Lenguaje:Inglês
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6458885/
https://ncbi.nlm.nih.gov/pubmed/31049239
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/7640140
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