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

研究成果: Article査読

26 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)1341-1344
ページ数4
ジャーナルNeurology
60
8
DOI
出版ステータスPublished - 2003 4 22

ASJC Scopus subject areas

  • 臨床神経学

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