The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.

@article{Magri2016TheIL,
  title={The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.},
  author={Francesca Magri and Vincenzo Nigro and Corrado I. Angelini and Tiziana E. Mongini and Marina Mora and Isabella Moroni and Antonio Rafael Quintero Toscano and Maria Grazia D'angelo and Giuliano Tomelleri and Gabriele Siciliano and Giulia Ricci and Claudio Bruno and Stefania Corti and Olimpia Musumeci and Giorgio Tasca and E. A. Ricci and Mauro Monforte and Monica Sciacco and Chiara Fiorillo and Sandra Gandossini and Carlo Minetti and Lucia Ovidia Morandi and Marco Savarese and Giuseppina Di Fruscio and Claudio Semplicini and Elena Pegoraro and Alessandra Govoni and Roberta Brusa and Roberto Del Bo and Dario Ronchi and Martina Moggio and N Bresolin and Giacomo Comi},
  journal={Muscle & nerve},
  year={2016},
  volume={55 1},
  pages={
          55-68
        }
}
INTRODUCTION Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. Their molecular definition is fundamental for prognostic and therapeutic purposes. METHODS We created an Italian LGMD registry that included 370 molecularly defined patients. We reviewed detailed retrospective and prospective data and compared each LGMD subtype for differential diagnosis purposes. RESULTS LGMD types 2A and 2B are… CONTINUE READING
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