日本 Miyoshi 肌病中的肌膜蛋白突变：与表型的关系。
Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.
作者信息
Takahashi T, Aoki M, Tateyama M, Kondo E, Mizuno T, Onodera Y, Takano R, Kawai H, Kamakura K, Mochizuki H, Shizuka-Ikeda M, Nakagawa M, Yoshida Y, Akanuma J, Hoshino K, Saito H, Nishizawa M, Kato S, Saito K, Miyachi T, Yamashita H, Kawai M, Matsumura T, Kuzuhara S, Ibi T, Sahashi K, Nakai H, Kohnosu T, Nonaka I, Arahata K, Brown R H, Saito H, Itoyama Y
机构信息
Department of Neurology, Tohoku University School of Medicine, Sendai, Japan.
出版信息
Neurology. 2003 Jun 10;60(11):1799-804. doi: 10.1212/01.wnl.0000068333.43005.12.
OBJECTIVE
To study dysferlin gene mutations and genotype-phenotype correlations in Japanese patients with Miyoshi myopathy (MM).
BACKGROUND
MM is an autosomal recessive distal muscular dystrophy that arises from mutations in the dysferlin gene. This gene is also mutated in families with limb girdle muscular dystrophy 2B.
METHODS
The authors examined 25 Japanese patients with MM. 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 or direct sequencing from the PCR fragments.
RESULTS
The authors identified 16 different mutations in 20 patients with MM; 10 were novel. Mutations in Japanese patients are distributed along the entire length of the gene.
CONCLUSIONS
Four mutations (C1939G, G3370T, 3746delG, and 4870delT) are relatively more prevalent in this population, accounting for 60% of the mutations in this study. This study revealed that the G3370T mutation was associated with milder forms of MM and the G3510A mutation was associated with a more severe form.
目的
研究日本宫下肌病（MM）患者的dysferlin基因突变及基因型-表型相关性。
背景
MM是一种常染色体隐性遗传性远端肌营养不良症，由dysferlin基因突变引起。该基因在肢带型肌营养不良症2B型家族中也发生突变。
方法
作者检查了25例日本MM患者。从患者外周淋巴细胞中提取基因组DNA。通过单链构象多态性或对PCR片段进行直接测序，对55个外显子中的每一个的PCR产物进行筛选。
结果
作者在20例MM患者中鉴定出16种不同的突变；其中10种是新发现的。日本患者中的突变分布在该基因的整个长度上。
结论
四种突变（C1939G、G3370T、3746delG和487delT）在该人群中相对更为常见，占本研究中突变的60%。本研究显示，G3370T突变与较轻形式的MM相关，而G3510A突变与更严重的形式相关。
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