Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

@article{Piluso2005ExtensiveSO,
  title={Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.},
  author={Giulio Piluso and Luisa Politano and Stefania Aurino and Marina Fanin and Elisa Ricci and Vega Maria Ventriglia and Anne W. Belsito and Angela Totaro and Valentina Saccone and Haluk Topaloğlu and Anna Chiara Nascimbeni and Luigi Fulizio and Aldobrando Broccolini and Nina Canki-Klain and Lucia I Comi and Giovanni Nigro and Corrado Angelini and Vincenzo Nigro},
  journal={Journal of medical genetics},
  year={2005},
  volume={42 9},
  pages={686-93}
}
BACKGROUND The limb girdle muscular dystrophies (LGMD) are a heterogeneous group of Mendelian disorders highlighted by weakness of the pelvic and shoulder girdle muscles. Seventeen autosomal loci have been so far identified and genetic tests are mandatory to distinguish among the forms. Mutations at the calpain 3 locus (CAPN3) cause LGMD type 2A. OBJECTIVE To obtain unbiased information on the consequences of CAPN3 mutations. PATIENTS 530 subjects with different grades of symptoms and 300… CONTINUE READING
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