Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report

BACKGROUND: ACAT-related enzyme 2 required for viability 1 (ARV1) encodes a transmembrane lipid transporter of the endoplasmic reticulum, which is presented in all eukaryotes and in plants. Deficiency of ARV1 is clinically presented as autosomal recessive developmental and epileptic encephalopathy 3...

Descripción completa

Detalles Bibliográficos
Autores principales: Karabinos, Anton, Hyblova, Michaela, Eckertova, Miroslava, Tomkova, Erika, Schwartzova, Drahomira, Luckanicova, Nikoleta, Magyarova, Gabriela, Minarik, Gabriel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8886762/
https://www.ncbi.nlm.nih.gov/pubmed/35227294
http://dx.doi.org/10.1186/s13256-022-03291-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8886762/
https://www.ncbi.nlm.nih.gov/pubmed/35227294
http://dx.doi.org/10.1186/s13256-022-03291-0

Ejemplares similares