Article
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy.
Annals of neurology - 1 Feb 1999
Minassian B A, Sainz J, Serratosa J M, Gee M, Sakamoto L M, Bohlega S, Geoffroy G, Barr C, Scherer S W, Tomiyasu U, Carpenter S, Wigg K, Sanghvi A V, Delgado-Escueta A V
Abstract excerpt
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...
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