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

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. Immunohistochemica...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Neurology 2003-04, Vol.60 (8), p.1341-1344
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution Chromosomes, Human, Pair 19 - genetics Consanguinity Cytoskeletal Proteins - metabolism Dystroglycans Genes, Recessive Glycosylation Humans Laminin - deficiency Laminin - metabolism Membrane Glycoproteins - metabolism Muscle, Skeletal - chemistry Muscle, Skeletal - pathology Muscular Dystrophies - blood Muscular Dystrophies - genetics Muscular Dystrophies - pathology Mutation, Missense Nerve Tissue Proteins - genetics Point Mutation Protein Processing, Post-Translational Proteins Reverse Transcriptase Polymerase Chain Reaction Tunisia
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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 alpha-dystroglycan and laminin-alpha2 supporting the hypothesis that FKRP has a role in the interaction between the extracellular matrix components.
ISSN:	0028-3878 1526-632X
DOI:	10.1212/01.WNL.0000065886.82930.C5