Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

Research output: Contribution to journalJournal articleResearchpeer-review

Bruno F Gavassini, Nicola Carboni, Jørgen E Nielsen, Else R Danielsen, Carsten Thomsen, Kirsten Svenstrup, Luca Bello, Maria Antonietta Maioli, Giovanni Marrosu, Anna Filomena Ticca, Marco Mura, Maria Giovanna Marrosu, Gianni Soraru, Corrado Angelini, John Vissing, Elena Pegoraro

In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations.
Original languageEnglish
JournalMuscle & Nerve
Issue number5
Pages (from-to)703-9
Number of pages7
Publication statusPublished - Nov 2011

    Research areas

  • Adolescent, Aged, Alternative Splicing, Base Sequence, Child, Female, Humans, Laminin, Male, Middle Aged, Molecular Sequence Data, Muscular Dystrophies, Limb-Girdle, Mutagenesis, Insertional, Mutation, Phenotype, RNA Splice Sites, Young Adult

ID: 38425923