A case of dysferlinopathy presenting choreic movements

Toshiaki Takahashi, Masashi Aoki, Takashi Imai, Masaru Yoshioka, Hedehiko Konno, Shuichi Higano, Yoshiaki Onodera, Hiroshi Saito, Itaru Kimura, Yasuto Itoyama

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)


Mutations in the dysferlin gene cause limb-girdle 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.

Original languageEnglish
Pages (from-to)1513-1515
Number of pages3
JournalMovement Disorders
Issue number9
Publication statusPublished - 2006 Sept


  • Chorea
  • Dysferlin
  • Limb-girdle muscular dystrophy type 2B


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