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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

40 Citazioni (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.
Lingua originaleEnglish
pagine (da-a)1634-1644
Numero di pagine11
RivistaNeurology
Volume83
DOI
Stato di pubblicazionePubblicato - 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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