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

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

54 Citations (Scopus)

Abstract

In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations.
Original languageEnglish
JournalMuscle & Nerve
Volume44
Issue number5
Pages (from-to)703-9
Number of pages7
ISSN0148-639X
DOIs
Publication statusPublished - 2011

Keywords

  • 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

Fingerprint

Dive into the research topics of 'Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations'. Together they form a unique fingerprint.

Cite this