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

doi:10.1212/01.WNL.0000065886.82930.C5

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

Research output: Contribution to journal › Article › peer-review

26 Citations (Scopus)

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	https://doi.org/10.1212/01.WNL.0000065886.82930.C5
Publication status	Published - 2003 Apr 22

ASJC Scopus subject areas

Clinical Neurology

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title = "Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I",

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.",

author = "A. Driss and S. Noguchi and R. Amouri and M. Kefi and T. Sasaki and K. Sugie and S. Souilem and Hayashi, {Y. K.} and N. Shimizu and S. Minoshima and J. Kudoh and F. Hentati and I. Nishino",

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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, T.

AU - Sugie, K.

AU - Souilem, S.

AU - Hayashi, Y. K.

AU - Shimizu, N.

AU - Minoshima, S.

AU - Kudoh, J.

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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