Mutational analysis in dysferlin gene in patients with muscular dystrophy in Japanese populations.

点击翻译按钮获取中文摘要

MM is an autosomal recessive distal muscular dystrophy that arises from mutations in the gene dysferlin. This gene is also mutated in families with limb girdle muscular dystrophy (LGMD) 2B. To study dysferlin gene mutations in Japanese patients with Miyoshi myopathy (MM) and undertake genotype-phenotype correlations in this disease, we examined 57 Japanese families with MM or LGMD. Genomic DNA was extracted from the peripheral lymphocytes of the patients. The PCR products of each of 55 exons were screened by single strand conformation polymorphism (SSCP) or direct sequencing from the PCR fragments. We identified mutations in 34 families with MM patients and 24 families with LGMD. Mutations in Japanese patients are distributed along the entire length of the gene. Five mutations (G1310+1A, C1939G, G3370T, 3746delG, and 4870delT) are relatively more prevalent in this population, accounting for 59 percent of the mutations in this study. We speculated that most patients with MM were selectively affected in the paravertebral muscles even in the very early stage. This study revealed that the G3370T and G3510A mutations are respectively associated with the mild and more severe forms of MM.