Cargando…
A novel truncating variant in the LAMP2 gene in a young woman with hypertrophic cardiomyopathy and variable clinical course in the family
Autores principales: | Michalak, Ewa, Franaszczyk, Maria, Sobieszczanska-Malek, Malgorzata, Karcz, Maciej, Szymanska, Sylwia, Szczygiel, Justyna, Lutynska, Anna, Ploski, Rafal, Bilinska, Zofia T. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Termedia Publishing House
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667409/ https://www.ncbi.nlm.nih.gov/pubmed/33224350 http://dx.doi.org/10.5114/aoms.2019.88610 |
Ejemplares similares
-
Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations
por: Franaszczyk, Maria, et al.
Publicado: (2017) -
Severe Course of Peripartum Cardiomyopathy and Subsequent Recovery in a Patient with a Novel TTN Gene-Truncating Mutation
por: Kryczka, Karolina E., et al.
Publicado: (2018) -
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation
por: Franaszczyk, Maria, et al.
Publicado: (2014) -
Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment
por: Chmielewski, Przemysław, et al.
Publicado: (2021) -
A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy—A Possible Role of a Low Penetrance NLRP3 Variant
por: Chmielewski, Przemysław, et al.
Publicado: (2020)