Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

  title={Limb-girdle muscular dystrophy in Guip{\'u}zcoa (Basque Country, Spain).},
  author={Miguel Urtasun and Amets S{\'a}enz and Carinne Roudaut and Juan Jos{\'e} Poza and Jon Andoni Urtizberea and Ana Mar{\'i}a Cobo and Isabelle Richard and F Garc{\'i}a Bragado and France Leturcq and Jean Claude Kaplan and Jos{\'e} F{\'e}lix Mart{\'i} Mass{\'o} and Jacques S. Beckmann and Adolfo L{\'o}pez de Mun{\'a}in},
  journal={Brain : a journal of neurology},
  volume={121 ( Pt 9)},
The concept of limb-girdle muscular dystrophy (LGMD) is changing rapidly due to the advances in molecular genetics. Recently, seven different gene loci have been described, demonstrating that limb-girdle muscular dystrophy is a heterogeneous syndrome, which includes different diseases with a similar phenotype. In isolated populations which have little genetic exchange with neighbouring populations, an accumulation of cases may be found. We carried out an epidemiological study in Guipúzcoa, a… CONTINUE READING
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