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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...

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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

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