Autosomal recessive limb girdle muscular dystrophies (LGMD) type 2A are a group of disorders characterised by progressive involvement of proximal limb girdle muscles and caused by changes in the CAPN3 gene. Involvement of tissues other than the skeletal muscle has not been reported so far. Here we describe the unusual association of LGMD2A and idiopathic generalised epilepsy in a 14-year-old girl.

Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?

MANCUSO, MICHELANGELO;GALLI, RENATO;SICILIANO, GABRIELE;MURRI, LUIGI
2006

Abstract

Autosomal recessive limb girdle muscular dystrophies (LGMD) type 2A are a group of disorders characterised by progressive involvement of proximal limb girdle muscles and caused by changes in the CAPN3 gene. Involvement of tissues other than the skeletal muscle has not been reported so far. Here we describe the unusual association of LGMD2A and idiopathic generalised epilepsy in a 14-year-old girl.
Pizzanelli, C; Mancuso, Michelangelo; Galli, Renato; Choub, A; Fanin, M; Nascimbeni, Ac; Siciliano, Gabriele; Murri, Luigi
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11568/108584
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