Article
Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.
Journal of human genetics - 1 Jan 2007
Kikuchi Taeko, Nomura Masayo, Tomita Hiroaki, Harada Naoki, Kanai Kazuaki, Konishi Tohru, Yasuda Ayako, Matsuura Masato, Kato Nobumasa, Yoshiura Koh-Ichiro, Niikawa Norio
Abstract excerpt
Paroxysmal kinesigenic choreoathetosis (PKC) is a paroxysmal movement disorder of unknown cause. Although the PKC-critical region (PKCCR) has been assigned to the pericentromeric region of chromosome 16 by several studies of families from various ethnic backgrounds, the causative gene has not yet been identified. In the present study, we performed linkage and haplotype analysis in four new families with PKC, as...
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