LMNA-associated myopathies: The Italian experience in a large cohort of patients

Lorenzo Maggi, Adele D'Amico, Antonella Pini, Serena Sivo, Marika Pane, Giulia Ricci, Liliana Vercelli, Paola D'Ambrosio, Lorena Travaglini, Simone Sala, Greta Brenna, Dimos Kapetis, Marina Scarlato, Elena Pegoraro, Maurizio Ferrari, Antonio Toscano, Sara Benedetti, Pia Bernasconi, Lara Colleoni, Giovanna LattanziEnrico Bertini, Eugenio Mercuri, Gabriele Siciliano, Carmelo Rodolico, Tiziana Mongini, Luisa Politano, Stefano C. Previtali, Nicola Carboni, Renato Mantegazza, Lucia Morandi

Research output: Contribution to journalArticlepeer-review


Objectives: Our aim was to conduct a comparative study in a large cohort of myopathic patients carrying LMNA gene mutations to evaluate clinical and molecular features associated with different phenotypes. Methods: We performed a retrospective cohort study of 78 myopathic patients with LMNA mutation and 30 familial cases with LMNA mutation without muscle involvement. We analyzed features characterizing the various forms of LMNA-related myopathy through correlation statistics. Results: Of the 78 patients, 37 (47%) had limb-girdle muscular dystrophy 1B (LGMD1B), 18 (23%) congenital muscular dystrophy (MDCL), 17 (22%) autosomal dominant Emery-Dreifuss muscular dystrophy 2 (EDMD2), and 6 (8%) an atypical myopathy. The myopathic phenotypes shared a similar cardiac impairment. Cardioverter defibrillator or pacemaker was implanted in 41 (53%) myopathic patients compared to 7 (23%) familial cases without muscle involvement (p = 0.005). Heart transplantation was performed in 8 (10.3%) myopathic patients and in none of the familial cases. Ten (12.8%) myopathic patients died; there were no deaths among the familial cases (p = 0.032). Missense mutations were found in 14 patients (82%) with EDMD2 and 14 patients (78%) with MDCL compared to 17 patients (45%) with LGMD1B and 4 (67%) atypical patients. Frameshift mutations were detected in 17 (45%) LGMD1B compared to 3 (18%) EDMD2, 1 (6%) MDCL, and 2 (33%) with atypical myopathy (p = 0.021). Furthermore, frameshift mutations were found in 30 of 73 patients (41%) with heart involvement compared to 4 of 35 (11%) without heart involvement (p = 0.004). Conclusions: Our data provided new insights in LMNA-related myopathies, whose natural history appears to be dominated by cardiac involvement and related complications.

Original languageEnglish
Pages (from-to)1634-1644
Number of pages11
Issue number18
Publication statusPublished - Oct 1 2014

ASJC Scopus subject areas

  • Clinical Neurology
  • Medicine(all)

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