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. 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.
Driss
A
A
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan. adel@weboris.com
Noguchi
S
S
Amouri
R
R
Kefi
M
M
Sasaki
T
T
Sugie
K
K
Souilem
S
S
Hayashi
Y K
YK
Shimizu
N
N
Minoshima
S
S
Kudoh
J
J
Hentati
F
F
Nishino
I
I
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
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