β Scribed by Toshiaki Takahashi; Masashi Aoki; Takashi Imai; Masaru Yoshioka; Hidehiko Konno; Shuichi Higano; Yoshiaki Onodera; Hiroshi Saito; Itaru Kimura; Yasuto Itoyama
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Mutations in the dysferlin gene cause limbβgirdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin. Β© 2006 Movement Disorder Society
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