Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.

Details

Serval ID
serval:BIB_39BC3772D5D4
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.
Journal
Cell
Author(s)
Roberds S.L., Leturcq F., Allamand V., Piccolo F., Jeanpierre M., Anderson R.D., Lim L.E., Lee J.C., Tomé F.M., Romero N.B., Fardeau M., Beckmann J.S., Kaplan J.C., Campbell K.P.
ISSN
0092-8674
Publication state
Published
Issued date
08/1994
Peer-reviewed
Oui
Volume
78
Number
4
Pages
625-633
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Abstract
Adhalin, the 50 kDa dystrophin-associated glycoprotein, is deficient in skeletal muscle of patients having severe childhood autosomal recessive muscular dystrophy (SCARMD). In several North African families, SCARMD has been linked to chromosome 13q, but SCARMD has been excluded from linkage to this locus in other families. We have now cloned human adhalin cDNA and mapped the adhalin gene to chromosome 17q12-q21.33, excluding it from involvement in 13q-linked SCARMD. However, one allelic variant of a polymorphic microsatellite located within intron 6 of the adhalin gene cosegregated perfectly with the disease phenotype in a large family. Furthermore, missense mutations were identified within the adhalin gene that might cause SCARMD in this family. Thus, the adhalin gene is involved in at least one form of autosomal recessive muscular dystrophy.
Keywords
Amino Acid Sequence, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 17, Cloning, Molecular, Cytoskeletal Proteins/genetics, DNA, Complementary/genetics, Genes, Recessive, Humans, Introns/genetics, Linkage (Genetics), Membrane Glycoproteins/genetics, Molecular Sequence Data, Muscular Dystrophies/genetics, Organ Specificity, Pedigree, Point Mutation/genetics, RNA, Messenger/analysis, Sarcoglycans, Sequence Analysis, DNA, Transcription, Genetic
Pubmed
Web of science
Create date
25/01/2008 16:18
Last modification date
20/08/2019 13:29
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