A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy

Dilated cardiomyopathy (DCM) is a common cause of heart failure and sudden cardiac death. It has been estimated that up to half of DCM cases are hereditary. Mutations in more than 50 genes, primarily autosomal dominant, have been reported. Although rare, recessive mutations are thought to contribute...

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Veröffentlicht in:	PLoS genetics 2020-09, Vol.16 (9), p.e1009000-e1009000
Hauptverfasser:	Levitas, Aviva, Muhammad, Emad, Zhang, Yuan, Perea Gil, Isaac, Serrano, Ricardo, Diaz, Nashielli, Arafat, Maram, Gavidia, Alexandra A, Kapiloff, Michael S, Mercola, Mark, Etzion, Yoram, Parvari, Ruti, Karakikes, Ioannis
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Age of Onset Autosomal recessive inheritance Biology and Life Sciences Biotechnology Calcium - metabolism Calcium homeostasis Cardiomyocytes Cardiomyopathy Cardiomyopathy, Dilated - etiology Cardiomyopathy, Dilated - genetics Causes of Cells, Cultured Child Child, Preschool Cloning Congestive heart failure CRISPR Dilated cardiomyopathy Engineering and Technology Female Funding Gene Editing Genes Genes, Recessive Genetic analysis Genetic aspects Genetics Genome editing Genomes Genotypes Health aspects Health sciences Heart surgery Heat-Shock Proteins Heredity Homeostasis Homozygote Humans Immunology Induced Pluripotent Stem Cells - cytology Induced Pluripotent Stem Cells - drug effects Infant Insulin Kinases Male Medicine Medicine and Health Sciences Muscle contraction Muscle Proteins - genetics Muscle Proteins - metabolism Mutants Mutation Myocardial Contraction Myocardial diseases Myocytes, Cardiac - pathology Pathogenicity Pediatrics Pedigree Peptide Fragments Phenotypes Physiological aspects Pluripotency Protein kinase Protein kinases Protein-Serine-Threonine Kinases - genetics Protein-Serine-Threonine Kinases - metabolism Skeletal muscle Software Stem cells Supervision Whole Exome Sequencing
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