Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I

被引：20

作者：

Driss, A

Noguchi, S

Amouri, R

Kefi, M

Sasaki, T

Sugie, K

Souilem, S

Hayashi, YK

Shimizu, N

Minoshima, S

Kudoh, J

Hentati, F

Nishino, I

机构：

[1] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, Tokyo 1878502, Japan

[2] Natl Inst Neurol, Dept Neurol, Tunis, Tunisia

[3] Keio Univ, Sch Med, Dept Mol Biol, Tokyo, Japan

来源：

NEUROLOGY | 2003年 / 60卷 / 08期

关键词：

D O I：

10.1212/01.WNL.0000065886.82930.C5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors mapped an autosomal recessive form of limb-girdle MD on chromosome 19q13.3 (LGMD21), 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.

引用

页码：1341 / 1344

页数：4

共 10 条

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