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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 Lattanzi
  • Enrico Bertini, Eugenio Maria Mercuri, Gabriele Siciliano, Carmelo Rodolico, Tiziana Mongini, Luisa Politano, Stefano C. Previtali, Nicola Carboni, Renato Mantegazza, Lucia Morandi
  • IRCCS Fondazione Istituto Neurologico Carlo Besta - Milano
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • IRCCS Istituto delle Scienze Neurologiche di Bologna
  • University of Pisa
  • University of Turin
  • University of Campania Luigi Vanvitelli
  • Electrophysiology Laboratories
  • Institute of Experimental Neurology (INSpe)
  • University of Padua
  • IRCCS Ospedale San Raffaele
  • University of Messina
  • Diagnostica e Ricerca San Raffaele
  • IRCCS Istituto Ortopedico Rizzoli - Bologna
  • University of Cagliari

Risultato della ricerca: Contributo in rivistaArticolo

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 originaleInglese
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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