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 |
| Publication status | Published - 2003 Apr 22 |
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ASJC Scopus subject areas
- Neuroscience(all)
Cite this
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. / Driss, A.; Noguchi, S.; Amouri, R.; Kefi, M.; Sasaki, Takashi; Sugie, K.; Souilem, S.; Hayashi, Y. K.; Shimizu, N.; Minoshima, S.; Kudo, Jun; Hentati, F.; Nishino, I.
In: Neurology, Vol. 60, No. 8, 22.04.2003, p. 1341-1344.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I
AU - Driss, A.
AU - Noguchi, S.
AU - Amouri, R.
AU - Kefi, M.
AU - Sasaki, Takashi
AU - Sugie, K.
AU - Souilem, S.
AU - Hayashi, Y. K.
AU - Shimizu, N.
AU - Minoshima, S.
AU - Kudo, Jun
AU - Hentati, F.
AU - Nishino, I.
PY - 2003/4/22
Y1 - 2003/4/22
N2 - 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.
AB - 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.
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M3 - Article
VL - 60
SP - 1341
EP - 1344
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 8
ER -