Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication. (Articolo in rivista)

Type
Label
  • Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication. (Articolo in rivista) (literal)
Anno
  • 2010-01-01T00:00:00+01:00 (literal)
Alternative label
  • Volpi L, Ricci G, Passino C, Di Pierri E, Alì G, Maccherini M, Benedetti S, Lattanzi G, Columbaro M, Ferrari M, Caramella D, Tanganelli P, Emdin M, Siciliano G (2010)
    Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication.
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Volpi L, Ricci G, Passino C, Di Pierri E, Alì G, Maccherini M, Benedetti S, Lattanzi G, Columbaro M, Ferrari M, Caramella D, Tanganelli P, Emdin M, Siciliano G (literal)
Pagina inizio
  • 512 (literal)
Pagina fine
  • 516 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 20 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Department of Neuroscience, University of Pisa, Via Roma 67, 56126 Pisa, Italy; Department of Cardiovascular Medicine, G. Monasterio Foundation, CNR, Pisa, Italy; Scuola Superiore Sant’Anna, Pisa, Italy; Department of Surgery, University of Pisa, Pisa, Italy; Cardiothoracic Surgery Department, University of Siena, Siena, Italy; Laboratory of Clinical Molecular Biology, Scientific Institute and University Vita-Salute San Raffaele, Milan, Italy; IGM-CNR, Unit of Bologna c/o IOR, Bologna, Italy; Università Vita-Salute San Raffaele, Milano, Italy; Genomic Unit for the Diagnosis of Human Pathologies, Centre for Genomics, Bioinformatics, and Biostatistics, San Raffaele Scientific Institute, Milano, Italy; Department of Diagnostic and Interventional Radiology, University of Pisa, Italy; Department of Pathology, University of Siena, Siena, Italy. (literal)
Titolo
  • Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication. (literal)
Abstract
  • Mutations in the lamin A/C gene (LMNA) are known to be involved in several diseases such as Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy type 1B and dilated cardiomyopathies with conduction disease, with considerable phenotype heterogeneity. Here we report on a novel autosomal dominant mutation in LMNA in two direct relatives presenting with different clinical phenotypes, characterized by severe life-threatening limb-girdle muscle involvement and cardiac dysfunction treated with heart transplantation in the proband, and by ventricular tachyarrhythmias with preserved cardiac and skeletal muscle function in her young son. To our knowledge, this is the first report of a duplication in the LMNA gene. The two phenotypes described could reflect different clinical stages of the same disease. We hypothesize that early recognition and initiation of therapeutic manoeuvres in the younger patient may retard the rate of progression of the cardiomyopathy. (literal)
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