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Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy
Authors:Berge A. Minassian  Jesus Sainz  Jose M. Serratosa  Manyee Gee  Lise M. Sakamoto  Saeed Bohlega  Guy Geoffroy  Cathy Barr  Steve W. Scherer  Uwamie Tomiyasu  Stirling Carpenter  Karen Wigg  A. V. Sanghvi  Antonio V. Delgado-Escueta
Abstract:In 1995, we mapped a gene for Lafora's progressive myoclonus epilepsy in chromosome 6q23-25. In 1997 and 1998, we reduced the size of the locus to 300 kb, and an international collaboration identified mutations in the protein tyrosine phosphatase gene. Here, we examine for heterogeneity through the admixture test in 22 families and estimate the proportion of linked families to be 75 to 85%. Extremely low posterior probabilities of linkage (Wi), exclusionary LOD scores, and haplotypes identify 4 families unlikely to be linked to chromosome 6q24. Ann Neurol 1999;45:262–265
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