title: A case of dysferlinopathy presenting choreic movements.
abstract: 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.
authors.affiliation: Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan.
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Takahashi
authors.forename: Masashi
authors.initials: M
authors.lastname: Aoki
authors.forename: Takashi
authors.initials: T
authors.lastname: Imai
authors.forename: Masaru
authors.initials: M
authors.lastname: Yoshioka
authors.forename: Hidehiko
authors.initials: H
authors.lastname: Konno
authors.forename: Shuichi
authors.initials: S
authors.lastname: Higano
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Onodera
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Saito
authors.forename: Itaru
authors.initials: I
authors.lastname: Kimura
authors.forename: Yasuto
authors.initials: Y
authors.lastname: Itoyama
mesh_terms: D001921:Brain / Q000473:pathology; D002819:Chorea / Q000175:diagnosis / Q000235:genetics*; D003062:Codon; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D000073939:Dysferlin; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008609:Mental Status Schedule; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D009710:Nucleotide Mapping; D014357:Trypsin / Q000235:genetics
chemical_list: D003062:Codon; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D014357:Trypsin; D003545:Cysteine