Document Detail

Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.
MedLine Citation:
PMID:  12707439     Owner:  NLM     Status:  MEDLINE    
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.
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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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  60     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2003 Apr 
Date Detail:
Created Date:  2003-04-22     Completed Date:  2004-01-14     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1341-4     Citation Subset:  AIM; IM    
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan.
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MeSH Terms
Amino Acid Substitution
Chromosomes, Human, Pair 19 / genetics
Cytoskeletal Proteins / metabolism
Genes, Recessive
Laminin / deficiency,  metabolism
Membrane Glycoproteins / metabolism
Muscle, Skeletal / chemistry,  pathology
Muscular Dystrophies / blood,  genetics*,  pathology
Mutation, Missense
Nerve Tissue Proteins / genetics
Point Mutation
Protein Processing, Post-Translational
Reverse Transcriptase Polymerase Chain Reaction
Reg. No./Substance:
0/Cytoskeletal Proteins; 0/DAG1 protein, human; 0/FKRP protein, human; 0/Laminin; 0/Membrane Glycoproteins; 0/Nerve Tissue Proteins; 0/Proteins; 0/laminin alpha 2; 146888-27-9/Dystroglycans
Comment In:
Neurology. 2003 Apr 22;60(8):1230-1   [PMID:  12707421 ]

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