Abstract
To establish clinical features of the limb-girdle muscular dystrophy type 2B (LGMD2B). The gene dysferlin was identified in 1998 and founded to be mutated in both patients with LGMD2B and Miyoshi myopathy (MM). We have analyzed the dysferlin gene and detected mutations in 30 families with LGMD2B and 41 families with MM. We had revealed that the G3370T mutation was associated with milder forms of MM. We observed 20 Japanese patients with LGMD2B in whom dysferlin mutations were confirmed. Eight patients of them carried the G3370T mutation.
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