[Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies].

Martínez-Bermejo, A; López-Martín, V; Serratosa, J M; Gutiérrez-Molina, M; Gómez-Garre, P; Arcas, J; Tendero, A; Roche, C; Pérez-Mies, B

[Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies]. / Enfermedad de Lafora. Confirmación diagnóstica por genética molecular de un nuevo caso.

Martínez-Bermejo, A; López-Martín, V; Serratosa, J M; Gutiérrez-Molina, M; Gómez-Garre, P; Arcas, J; Tendero, A; Roche, C; Pérez-Mies, B.

Affiliation

Martínez-Bermejo A; Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid, España. med014988@saludalia.com

Rev Neurol ; 34(2): 117-20, 2002.

Article in Es | MEDLINE | ID: mdl-11988905

Subject(s)

Lafora Disease/diagnosis; Lafora Disease/genetics; Molecular Biology/methods; Child; Chromosomes, Human, Pair 6/genetics; Electroencephalography; Exons; Gene Expression/genetics; Humans; Inclusion Bodies/pathology; Male; Point Mutation/genetics; Protein Tyrosine Phosphatases/genetics; Protein Tyrosine Phosphatases, Non-Receptor; Sweat Glands/pathology

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Collection: 01-internacional Database: MEDLINE Main subject: Lafora Disease / Molecular Biology Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Humans / Male Language: Es Journal: Rev Neurol Year: 2002 Type: Article

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