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

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25 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

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ASJC Scopus subject areas

Clinical Neurology

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

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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.",

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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

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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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10.1212/01.WNL.0000065886.82930.C5