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

Pizzanelli, C; Mancuso, M; Galli, R; Choub, A; Fanin, M; Nascimbeni, A C; Siciliano, G; Murri, L

Pizzanelli, C; Mancuso, M; Galli, R; Choub, A; Fanin, M; Nascimbeni, A C; Siciliano, G; Murri, L.

Affiliation

Pizzanelli C; Neurophysiopathology Unit, Hospital Lotti, Via Roma 180, I-56025, Pontedera, and Department of Neuroscience, University of Pisa, Italy.

Neurol Sci ; 27(2): 134-6, 2006 Jun.

Article in En | MEDLINE | ID: mdl-16816913

ABSTRACT

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.

Subject(s)

Calpain/genetics; Epilepsy/complications; Epilepsy/genetics; Muscle Proteins/genetics; Muscular Dystrophies, Limb-Girdle/complications; Muscular Dystrophies, Limb-Girdle/genetics; Adolescent; Base Sequence; Calpain/deficiency; Electroencephalography; Epilepsy/physiopathology; Female; Humans; Muscle Proteins/deficiency; Muscular Dystrophies, Limb-Girdle/physiopathology; Mutation; Phenotype

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Collection: 01-internacional Database: MEDLINE Main subject: Calpain / Muscular Dystrophies, Limb-Girdle / Epilepsy / Muscle Proteins Type of study: Diagnostic_studies Limits: Adolescent / Female / Humans Language: En Journal: Neurol Sci Year: 2006 Document type: Article

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