Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants

Hypertrophic cardiomyopathy associated with damaging variants in the ALPK3 gene is a fairly recent discovery, and only a small number of patients have been described thus far. Here we present two additional patients with hypertrophic cardiomyopathy caused by biallelic variants in ALPK3. Genetic inve...

Descripción completa

Detalles Bibliográficos
Autores principales: Jorholt, John, Formicheva, Yulia, Vershinina, Tatyana, Kiselev, Artem, Muravyev, Alexey, Demchenko, Elena, Fedotov, Petr, Zlotina, Anna, Rygkov, Anton, Vasichkina, Elena, Sejersen, Thomas, Kostareva, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7602582/
https://www.ncbi.nlm.nih.gov/pubmed/33076350
http://dx.doi.org/10.3390/genes11101201

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7602582/
https://www.ncbi.nlm.nih.gov/pubmed/33076350
http://dx.doi.org/10.3390/genes11101201

Ejemplares similares