A case of dysferlinopathy presenting cho
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Toshiaki Takahashi; Masashi Aoki; Takashi Imai; Masaru Yoshioka; Hidehiko Konno;
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Article
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2006
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John Wiley and Sons
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English
β 98 KB
## Abstract 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 G337