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.

Afiliación

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 en 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.

Asunto(s)

Calpaína/genética; Epilepsia/complicaciones; Epilepsia/genética; Proteínas Musculares/genética; Distrofia Muscular de Cinturas/complicaciones; Distrofia Muscular de Cinturas/genética; Adolescente; Secuencia de Bases; Calpaína/deficiencia; Electroencefalografía; Epilepsia/fisiopatología; Femenino; Humanos; Proteínas Musculares/deficiencia; Distrofia Muscular de Cinturas/fisiopatología; Mutación; Fenotipo

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Base de datos: MEDLINE Asunto principal: Calpaína / Distrofia Muscular de Cinturas / Epilepsia / Proteínas Musculares Tipo de estudio: Diagnostic_studies Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2006 Tipo del documento: Article

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