1.
J Med Genet
; 61(4): 405-409, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38050058
RESUMO
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.
Assuntos
Cardiomiopatias , Cardiomiopatia Dilatada , Comunicação Interventricular , Humanos , Cardiomiopatia Dilatada/genética , Placofilinas/genética , Cardiomiopatias/genética , Homozigoto
2.
BMJ
; 346: f2866, 2013 May 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23697671
3.
BMJ
; 346: f650, 2013 Feb 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23427132
4.
BMJ
; 340: c3209, 2010 Jun 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20584794