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

doi:10.1002/mds.21027

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

医学系研究科・医科学専攻

研究成果: Article › 査読

7 被引用数 (Scopus)

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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.

本文言語	English
ページ（範囲）	1513-1515
ページ数	3
ジャーナル	Movement Disorders
巻	21
号	9
DOI	https://doi.org/10.1002/mds.21027
出版ステータス	Published - 2006 9月

ASJC Scopus subject areas

神経学
臨床神経学

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10.1002/mds.21027

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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.",

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AU - Takahashi, Toshiaki

AU - Aoki, Masashi

AU - Imai, Takashi

AU - Yoshioka, Masaru

AU - Konno, Hedehiko

AU - Higano, Shuichi

AU - Onodera, Yoshiaki

AU - Saito, Hiroshi

AU - Kimura, Itaru

AU - Itoyama, Yasuto

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AB - 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.

KW - Chorea

KW - Dysferlin

KW - Limb-girdle muscular dystrophy type 2B

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A case of dysferlinopathy presenting choreic movements

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