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 |
| 巻 | 60 |
| 号 | 8 |
| DOI | |
| 出版ステータス | Published - 2003 4月 22 |
ASJC Scopus subject areas
- 臨床神経学