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
Neurology 2003 April 22, 60 (8): 1341-4
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 alpha-dystroglycan and laminin-alpha2 supporting the hypothesis that FKRP has a role in the interaction between the extracellular matrix components.

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