Novel α-Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias | Zendy

Francesca Girolami | Zendy; Maria Iascone | Zendy; Benedetta Tomberli | Zendy; Sara Bardi | Zendy; Matteo Benelli | Zendy; Giuseppina Marseglia | Zendy; Chiara Pescucci | Zendy; Laura Pezzoli | Zendy; Maria Elena Sana | Zendy; Cristina Basso | Zendy; Nicola Marziliano | Zendy; Piera Angelica Merlini | Zendy; Alessandra Fornaro | Zendy; Franco Cecchi | Zendy; Francesca Torricelli | Zendy; Iacopo Olivotto | Zendy

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Novel α-Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias

Author(s) -

Francesca Girolami,

Maria Iascone,

Benedetta Tomberli,

Sara Bardi,

Matteo Benelli,

Giuseppina Marseglia,

Chiara Pescucci,

Laura Pezzoli,

Maria Elena Sana,

Cristina Basso,

Nicola Marziliano,

Piera Angelica Merlini,

Alessandra Fornaro,

Franco Cecchi,

Francesca Torricelli,

Iacopo Olivotto

Publication year - 2014

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.113.000486

Subject(s) - hypertrophic cardiomyopathy , sanger sequencing , proband , genetics , exome sequencing , cardiomyopathy , biology , medicine , mutation , heart failure , gene , cardiology

Next-generation sequencing might be particularly advantageous in genetically heterogeneous conditions, such as hypertrophic cardiomyopathy (HCM), in which a considerable proportion of patients remain undiagnosed after Sanger. In this study, we present an Italian family with atypical HCM in which a novel disease-causing variant in α-actinin 2 (ACTN2) was identified by next-generation sequencing.

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