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Article

A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain.

Revista espanola de cardiologia (English ed.) - 1 Feb 2017

Sabater-Molina María, Saura Daniel, García-Molina Sáez Esperanza, González-Carrillo Josefa, Polo Luis, Pérez-Sánchez Inmaculada, Olmo María Del Carmen, Oliva-Sandoval María José, Barriales-Villa Roberto, Carbonell Pablo, Pascual-Figal Domigo, Gimeno Juan R

Abstract excerpt

INTRODUCTION AND OBJECTIVES: Mutations in MYBPC3 are the cause of hypertrophic cardiomyopathy (HCM). Although most lead to a truncating protein, the severity of the phenotype differs. We describe the clinical phenotype of a novel MYBPC3 mutation, p.Pro108Alafs*9, present in 13 families from southern Spain and compare it with the most prevalent MYBPC3 mutation in this region (c.2308+1 G>A). METHODS: We studied 107...

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Identifiers

PMID: 28029522
DOI: 10.1016/j.rec.2016.06.020

Genes

MYBPC3

Variants

Provenance

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