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 language | English |
|---|---|
| Pages (from-to) | 1341-1344 |
| Number of pages | 4 |
| Journal | Neurology |
| Volume | 60 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - 2003 Apr 22 |
ASJC Scopus subject areas
- Clinical Neurology
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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