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 alpha-dystroglycan and laminin-alpha2 supporting the hypothesis that FKRP has a role in the interaction between the extracellular matrix components.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan. adel@weboris.com
authors.forename: A
authors.initials: A
authors.lastname: Driss
authors.forename: S
authors.initials: S
authors.lastname: Noguchi
authors.forename: R
authors.initials: R
authors.lastname: Amouri
authors.forename: M
authors.initials: M
authors.lastname: Kefi
authors.forename: T
authors.initials: T
authors.lastname: Sasaki
authors.forename: K
authors.initials: K
authors.lastname: Sugie
authors.forename: S
authors.initials: S
authors.lastname: Souilem
authors.forename: Y K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
authors.forename: S
authors.initials: S
authors.lastname: Minoshima
authors.forename: J
authors.initials: J
authors.lastname: Kudoh
authors.forename: F
authors.initials: F
authors.lastname: Hentati
authors.forename: I
authors.initials: I
authors.lastname: Nishino
mesh_terms: D019943:Amino Acid Substitution; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D003241:Consanguinity; D003598:Cytoskeletal Proteins / Q000378:metabolism; D049030:Dystroglycans; D005808:Genes, Recessive; D006031:Glycosylation; D006801:Humans; D007797:Laminin / Q000172:deficiency / Q000378:metabolism; D008562:Membrane Glycoproteins / Q000378:metabolism; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology; D009136:Muscular Dystrophies / Q000097:blood / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics; D010430:Pentosyltransferases; D017354:Point Mutation; D011499:Protein Processing, Post-Translational; D011506:Proteins; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014416:Tunisia
chemical_list: D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D007797:Laminin; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D011506:Proteins; C102645:laminin alpha 2; D049030:Dystroglycans; C443107:FKRP protein, human; D010430:Pentosyltransferases