Cargando…
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...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
|
| Materias: | |
| 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 |