Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy | Zendy

Laëtitia Duboscq-Bidot | Zendy; Peng Xu | Zendy; Philippe Charron | Zendy; Nathalie Neyroud | Zendy; Gilles Dilanian | Zendy; A Millaire | Zendy; V. Bors | Zendy; Michel Komajda | Zendy; Eric Villard | Zendy

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Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy

Author(s) -

Laëtitia Duboscq-Bidot,

Peng Xu,

Philippe Charron,

Nathalie Neyroud,

Gilles Dilanian,

A Millaire,

V. Bors,

Michel Komajda,

Eric Villard

Publication year - 2007

Publication title -

cardiovascular research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.774

H-Index - 219

eISSN - 1755-3245

pISSN - 0008-6363

DOI - 10.1093/cvr/cvm015

Subject(s) - missense mutation , haploinsufficiency , dilated cardiomyopathy , biology , genetics , mutation , proband , cardiomyopathy , gene , microbiology and biotechnology , heart failure , medicine , phenotype

Idiopathic dilated cardiomyopathy (DCM) is a cardiac disorder characterized by left ventricular dilatation and impaired systolic contraction. It is a major cause of heart failure and heart transplantation. DCM is of genetic origin in approximately 30% of cases and genetically heterogeneous with the identification of numerous disease genes. However, many new disease genes remain to be discovered. Focusing on gene products located in the sarcomere of cardiomyocytes as disease-causing candidates, we screened the gene encoding the sarcomeric Z-band protein myopalladin (MYPN, OMIM 608517) for mutation.

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