A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death

BACKGROUND: Hypertrophic Cardiomyopathy (HCM) is a genetically heterogeneous disease. One specific mutation in the MYBPC3 gene is highly prevalent in center east of France giving an opportunity to define the clinical profile of this specific mutation. METHODS: HCM probands were screened for mutation...

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Detalles Bibliográficos
Autores principales: Teirlinck, Carolien H, Senni, Faïza, Malti, Rajae El, Majoor-Krakauer, Danielle, Fellmann, Florence, Millat, Gilles, André-Fouët, Xavier, Pernot, François, Stumpf, Michaël, Boutarin, Jean, Bouvagnet, Patrice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3549277/
https://www.ncbi.nlm.nih.gov/pubmed/23140321
http://dx.doi.org/10.1186/1471-2350-13-105

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3549277/
https://www.ncbi.nlm.nih.gov/pubmed/23140321
http://dx.doi.org/10.1186/1471-2350-13-105

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