Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication

L. Volpi, G. Ricci, C. Passino, E. Di Pierri, G. Alì, M. Maccherini, S. Benedetti, G. Lattanzi, M. Columbaro, M. Ferrari, D. Caramella, P. Tanganelli, M. Emdin, G. Siciliano

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)512-516
Number of pages5
JournalNeuromuscular Disorders
Issue number8
Publication statusPublished - Aug 2010


  • Dilated cardiomyopathy
  • Lamin A/C
  • Limb-girdle muscular dystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology


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