Article
Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2006
Pizzanelli C, Mancuso M, Galli R, Choub A, Fanin M, Nascimbeni A C, Siciliano G, Murri L
Abstract excerpt
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.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.