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

A. Driss, S. Noguchi, R. Amouri, M. Kefi, T. Sasaki, K. Sugie, S. Souilem, Y. K. Hayashi, N. Shimizu, S. Minoshima, J. Kudoh, F. Hentati, I. Nishino

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Abstract

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 α-dystroglycan and laminin-α2 supporting the hypothesis that FKRP has a role in the interaction between the extracellular matrix components.

Original languageEnglish
Pages (from-to)1341-1344
Number of pages4
JournalNeurology
Volume60
Issue number8
DOIs
Publication statusPublished - 2003 Apr 22

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ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Driss, A., Noguchi, S., Amouri, R., Kefi, M., Sasaki, T., Sugie, K., Souilem, S., Hayashi, Y. K., Shimizu, N., Minoshima, S., Kudoh, J., Hentati, F., & Nishino, I. (2003). Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. Neurology, 60(8), 1341-1344. https://doi.org/10.1212/01.WNL.0000065886.82930.C5