title: Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
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.
authors.affiliation: Neurophysiopathology Unit, Hospital Lotti, Via Roma 180, I-56025, Pontedera, and Department of Neuroscience, University of Pisa, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Pizzanelli
authors.forename: M
authors.initials: M
authors.lastname: Mancuso
authors.forename: R
authors.initials: R
authors.lastname: Galli
authors.forename: A
authors.initials: A
authors.lastname: Choub
authors.forename: M
authors.initials: M
authors.lastname: Fanin
authors.forename: A C
authors.initials: AC
authors.lastname: Nascimbeni
authors.forename: G
authors.initials: G
authors.lastname: Siciliano
authors.forename: L
authors.initials: L
authors.lastname: Murri
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002154:Calpain / Q000172:deficiency / Q000235:genetics*; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D009124:Muscle Proteins / Q000172:deficiency / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D010641:Phenotype
chemical_list: D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain