Literature DB >> 23870641

The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain).

Julián R Reguero1, Juan Gómez, María Martín, Juan P Flórez, César Morís, Sara Iglesias, Belén Alonso, Victoria Alvarez, Eliecer Coto.   

Abstract

Entities:  

Keywords:  Hypertrophic cardiomyopathy; MYBPC3; Phenotype; Sarcomeric gene mutation

Mesh：

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Year:  2013        PMID： 23870641     DOI： 10.1016/j.ijcard.2013.06.085

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


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  2 in total

1.  Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Authors:  Irene Mademont-Soler; Jesus Mates; Raquel Yotti; Maria Angeles Espinosa; Alexandra Pérez-Serra; Ana Isabel Fernandez-Avila; Monica Coll; Irene Méndez; Anna Iglesias; Bernat Del Olmo; Helena Riuró; Sofía Cuenca; Catarina Allegue; Oscar Campuzano; Ferran Picó; Carles Ferrer-Costa; Patricia Álvarez; Sergio Castillo; Pablo Garcia-Pavia; Esther Gonzalez-Lopez; Laura Padron-Barthe; Aranzazu Díaz de Bustamante; María Teresa Darnaude; José Ignacio González-Hevia; Josep Brugada; Francisco Fernandez-Aviles; Ramon Brugada
Journal:  PLoS One       Date:  2017-08-03       Impact factor: 3.240

2.  Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

Authors:  Sari U M Vanninen; Krista Leivo; Eija H Seppälä; Katriina Aalto-Setälä; Olli Pitkänen; Piia Suursalmi; Antti-Pekka Annala; Ismo Anttila; Tero-Pekka Alastalo; Samuel Myllykangas; Tiina M Heliö; Juha W Koskenvuo
Journal:  PLoS One       Date:  2018-09-20       Impact factor: 3.240
  2 in total

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