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

Eugenio Maria Mercuri, Lorenzo Maggi, Adele D'Amico, Antonella Pini, 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 Lattanzi, Enrico BertiniGabriele Siciliano, Carmelo Rodolico, Tiziana Mongini, Luisa Politano, Stefano C. Previtali, Nicola Carboni, Renato Mantegazza, Lucia Morandi

Research output: Contribution to journalArticle

40 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)1634-1644
Number of pages11
JournalNeurology
Volume83
DOIs
Publication statusPublished - 2014

Keywords

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Cardiomyopathies
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Humans
  • Italy
  • Lamin Type A
  • Male
  • Middle Aged
  • Muscular Diseases
  • Muscular Dystrophies
  • Muscular Dystrophies, Limb-Girdle
  • Muscular Dystrophy, Emery-Dreifuss
  • Mutation, Missense
  • Pedigree
  • Phenotype
  • Young Adult

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