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Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant.
Duvekot, Jantiene C; Baas, Annette F; Volker-Touw, Catharina M L; Bikker, Hennie; Schroer, Christian; Breur, Johannes M P J.
  • Duvekot JC; Department of Pediatric Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Baas AF; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Volker-Touw CML; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Bikker H; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Schroer C; Department of Pediatrics, Maxima Medical Center Veldhoven, Veldhoven, The Netherlands.
  • Breur JMPJ; Department of Pediatric Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: h.breur@umcutrecht.nl.
Can J Cardiol ; 37(11): 1864-1866, 2021 11.
Article en En | MEDLINE | ID: mdl-33984427
ABSTRACT
Two siblings presented with early lethal noncompaction cardiomyopathy (NCCM). Both carry compound heterozygous variants in the ryanodine receptor gene (RYR2). Evolving animal and human data have begun to implicate a role for RYR2 dysfunction in the development of NCCM. The identified RYR2 variants are therefore likely causative for this early lethal NCCM phenotype. Further research is needed to understand the role of RYR2 in the heart compaction process.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ADN / Canal Liberador de Calcio Receptor de Rianodina / Hermanos / No Compactación Aislada del Miocardio Ventricular / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Newborn Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ADN / Canal Liberador de Calcio Receptor de Rianodina / Hermanos / No Compactación Aislada del Miocardio Ventricular / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Newborn Idioma: En Año: 2021 Tipo del documento: Article