1.
J Med Genet
; 61(4): 405-409, 2024 Mar 21.
Artículo
en Inglés
| MEDLINE
| ID: mdl-38050058
RESUMEN
Homozygous plakophilin-2 (PKP2) variants have been identified as a cause of a lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET) in three cases. We report three more cases from two families with homozygous pathogenic PKP2 variants and perinatal-onset, lethal DCM-ET. Identification of the genetic abnormalities played a key role in decision-making and family counselling in these cases. This case series supports the published evidence that biallelic loss of function PKP2 variants cause a lethal, perinatal-onset cardiomyopathy.
Asunto(s)
Cardiomiopatías , Cardiomiopatía Dilatada , Defectos del Tabique Interventricular , Humanos , Cardiomiopatía Dilatada/genética , Placofilinas/genética , Cardiomiopatías/genética , Homocigoto
2.
Nature
; 516(7530): 170, 2014 Dec 11.
Artículo
en Inglés
| MEDLINE
| ID: mdl-25503226