Abstract
Background: The gene dysferlin was identified in 1998 and founded to be mutated in both patients with limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). We had revealed that the c.2997G>T mutation was relatively more prevalent in Japanese population and associated with milder forms of MM. Objective: To establish clinical features of LGMD2B with the c.2997G>T mutation. Methods: We observed 40 Japanese patients with LGMD2B in whom dysferlin mutations were confirmed. Ten patients of them were homozygous for the c.2997G>T mutation (homozygote group).
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