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

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)


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
Issue number8
Publication statusPublished - 2003 Apr 22

ASJC Scopus subject areas

  • Clinical Neurology


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