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Neurology 2003;60:1799-1804
© 2003 American Academy of Neurology

Dysferlin mutations in Japanese Miyoshi myopathy

Relationship to phenotype

T. Takahashi, MD, M. Aoki, MD, M. Tateyama, MD, E. Kondo, T. Mizuno, BS, Y. Onodera, BS, R. Takano, H. Kawai, MD, K. Kamakura, MD, H. Mochizuki, MD, M. Shizuka-Ikeda, MD, M. Nakagawa, MD, Y. Yoshida, MD, J. Akanuma, MD, K. Hoshino, MD, H. Saito, MD, M. Nishizawa, MD, S. Kato, MD, K. Saito, MD, T. Miyachi, MD, H. Yamashita, MD, M. Kawai, MD, T. Matsumura, MD, S. Kuzuhara, MD, T. Ibi, MD, K. Sahashi, MD, H. Nakai, MD, T. Kohnosu, MD, I. Nonaka, MD, K. Arahata, MD, R.H. Brown, Jr., MD, H. Saito, MD* and Y. Itoyama, MD

From the Department of Neurology (Drs. Takahashi, Aoki, Tateyama, and Itoyama, and T. Mizuno, Y. Onodera, and R. Takano), Tohoku University School of Medicine, Sendai; Department of Neurology and Division of Clinical Research (Drs. Takahashi, Nakai, Kohnosu, and H. Saito *, and E. Kondo), Nishitaga National Hospital, Sendai; Takamatsu City Hospital (Dr. H. Kawai), Kagawa; The Third Department of Internal Medicine (Drs. Kamakura and Mochizuki), National Defense Medical College, Saitama; Department of Neurology (Dr. Shizuka-Ikeda), Gunma University; The Third Department of Internal Medicine (Dr. Nakagawa), Kagoshima University; Department of Neurology (Drs. Yoshida and Akanuma), Fukushima Medical University; The First Department of Pediatrics (Dr. Hoshino), Toho University, Tokyo; Akita Red Cross Hospital (Dr. H. Saito); Department of Neurology (Dr. Nishizawa), Jichi Medical School, Tochigi; Shin-Fuji Hospital (Dr. Kato), Shizuoka; Department of Pediatrics (Dr. K. Saito), Tokyo Women’s Medical University; The Third Department of Internal Medicine (Drs. Miyachi and Yamashita), Hiroshima University; National Center Hospital for Mental, Nervous and Muscular Disorders (Dr. M. Kawai), Tokyo; Department of Neuromuscular Research (Drs. Matsumura, Nonaka, and Arahata), National Institute of Neuroscience, NCNP, Tokyo; Department of Neurology (Dr. Kuzuhara), Mie University; Department of Neurology (Drs. Ibi and Sahashi), Aichi Medical University, Japan; and Day Neuromuscular Research (Dr. Brown), Massachusetts General Hospital, MA.

Address correspondence and reprint requests to Dr. Masashi Aoki, Department of Neurology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Sendai 980-8574, Japan; e-mail: aokim{at}mail.cc.tohoku.ac.jp

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.




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