Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.

Lohi, H; Turnbull, J; Zhao, X C; Pullenayegum, S; Ianzano, L; Yahyaoui, M; Mikati, M A; Quinn, N P; Franceschetti, S; Zara, F; Minassian, B A

Lohi, H; Turnbull, J; Zhao, X C; Pullenayegum, S; Ianzano, L; Yahyaoui, M; Mikati, M A; Quinn, N P; Franceschetti, S; Zara, F; Minassian, B A.

Affiliation

Lohi H; Program in Genetics and Genomic Biology and Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada.

Neurology ; 68(13): 996-1001, 2007 Mar 27.

Article in En | MEDLINE | ID: mdl-17389303

Subject(s)

Carrier Proteins/genetics; Diagnostic Errors/prevention & control; Genetic Predisposition to Disease/genetics; Lafora Disease/diagnosis; Lafora Disease/genetics; Adolescent; Adult; Age of Onset; Base Sequence/genetics; Chromosome Mapping/methods; DNA Mutational Analysis/methods; Female; Genetic Linkage/genetics; Genetic Markers/genetics; Genotype; Heterozygote; Humans; In Situ Hybridization, Fluorescence/methods; Lafora Disease/physiopathology; Male; Mutation/genetics; Pedigree; Polymerase Chain Reaction/methods; Polymorphism, Single Nucleotide/genetics; Protein Tyrosine Phosphatases/genetics; Protein Tyrosine Phosphatases, Non-Receptor; Ubiquitin-Protein Ligases

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Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Genetic Predisposition to Disease / Lafora Disease / Diagnostic Errors Type of study: Clinical_trials / Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Neurology Year: 2007 Document type: Article

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