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From the Day Neuromuscular Research Laboratory (Drs. Matsuda, Aoki, Ho, and Brown), Massachusetts General Hospital–East, Charlestown, MA; National Institute of Biosciences and Human Technology (Dr. Matsuda), Agency of Industrial Science and Technology, Tsukuba, Japan; Department of Neurology (Dr. Aoki), Tohoku University School of Medicine, Sendai, Japan; and Department of Neuromuscular Research (Y.K. Hayashi and Dr. Arahata), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Address correspondence and reprint requests to Dr. R.H. Brown, Jr., the Day Neuromuscular Research Laboratory, Massachusetts General Hospital–East, Room 6627, Building 149, 13th Street, Navy Yard, Charlestown, MA 02129.
Recently we reported that mutations in a muscle protein "dysferlin" are present in limb girdle muscular dystrophy–2B and a related, adult-onset, distal dystrophy known as Miyoshi myopathy (MM). We report that antibodies to dysferlin identify a protein of approximately 230 kDa and show that dysferlin is located in the muscle membrane. This protein is absent in MM and LGMD-2B muscle. By contrast, dystrophin and other dystrophin-associated proteins are normal in these patients. Thus, dysferlin is a membrane-associated protein that is not likely to be an integral component of the dystrophin complex. Although it is not essential for initial myogenesis, it appears to be critical for sustained normal function in mature muscle.
Key words: Dysferlin—Protein—Miyoshi myopathy.
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