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

A. Driss, S. Noguchi, R. Amouri, M. Kefi, Takashi Sasaki, K. Sugie, S. Souilem, Y. K. Hayashi, N. Shimizu, S. Minoshima, Jun Kudo, F. Hentati, I. Nishino

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)1341-1344
Number of pages4
JournalNeurology
Volume60
Issue number8
Publication statusPublished - 2003 Apr 22

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Extremities
Dystroglycans
Laminin
Extracellular Matrix
Proteins
Chromosomes
Mutation
Muscular Dystrophy, Limb-Girdle, Type 2I

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Driss, A., Noguchi, S., Amouri, R., Kefi, M., Sasaki, T., Sugie, K., ... Nishino, I. (2003). Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. Neurology, 60(8), 1341-1344.

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 journalArticle

Driss, A, Noguchi, S, Amouri, R, Kefi, M, Sasaki, T, Sugie, K, Souilem, S, Hayashi, YK, Shimizu, N, Minoshima, S, Kudo, J, Hentati, F & Nishino, I 2003, 'Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I', Neurology, vol. 60, no. 8, pp. 1341-1344.
Driss A, Noguchi S, Amouri R, Kefi M, Sasaki T, Sugie K et al. Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. Neurology. 2003 Apr 22;60(8):1341-1344.
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. / Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. In: Neurology. 2003 ; Vol. 60, No. 8. pp. 1341-1344.
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AU - Sugie, K.

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