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Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I

From the Department of Neuromuscular Research (Drs. Driss, Noguchi, Sugie, Hayashi, and Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan; the Department of Neurology (Drs. Driss, Amouri, Kefi, Souilem, and Hentati), National Institute of Neurology, La Rabta, Tunis, Tunisia; and the Department of Molecular Biology (Drs. Sasaki, Minoshima, Kudoh, and Shimizu) Keio University School of Medicine, Tokyo, Japan.

Address correspondence and reprint requests to Dr. Adel DRISS, National Center of Neurology and Psychiatry, NCNP, National Institute of Neuroscience, 4-1-1 Ogawa Higashi, Kodaira, 187-8502 Tokyo, Japan; e-mail: adel{at}weboris.com

The authors mapped an autosomal recessive form of limb-girdle MD on chromosome 19q13.3 (LGMD2I), further narrowed down the candidate region to 1.1 Mb, and identified one new homozygous mutation in the fukutin-related protein (FKRP) gene on patients of the original Tunisian family. Immunohistochemical and immunoblot analysis showed abnormal expression of -dystroglycan and laminin-2 supporting the hypothesis that FKRP has a role in the interaction between the extracellular matrix components.

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