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Titolo:
BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE
Autore:
DUCLOS F; BROUX O; BOURG N; STRAUB V; FELDMAN GL; SUNADA Y; LIM LE; PICCOLO F; CUTSHALL S; GARY F; QUETIER F; KAPLAN JC; JACKSON CE; BECKMANN JS; CAMPBELL KP;
Indirizzi:
UNIV IOWA,COLL MED,HOWARD HUGHES MED INST,DEPT PHYSIOL & BIOPHYS IOWACITY IA 52242 UNIV IOWA,COLL MED,HOWARD HUGHES MED INST,DEPT PHYSIOL & BIOPHYS IOWACITY IA 52242 UNIV IOWA,COLL MED,DEPT NEUROL IOWA CITY IA 52242 GENETHON,CNRS,URA 1922 F-91000 EVRY FRANCE HENRY FORD HOSP,DEPT MED GENET DETROIT MI 48202 HOP COCHIN MATERNITES,INSERM,U129 F-75014 PARIS FRANCE CTR ETUD POLYMORPHISME HUMAIN,FDN JEAN DAUSSET F-75010 PARIS FRANCE
Titolo Testata:
Neuromuscular disorders
fascicolo: 1, volume: 8, anno: 1998,
pagine: 30 - 38
SICI:
0960-8966(1998)8:1<30:B-GAAI>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECESSIVE MUSCULAR-DYSTROPHY; GLYCOPROTEIN COMPLEX; LAMININ ALPHA-2-CHAIN; EXTRACELLULAR-MATRIX; GAMMA-SARCOGLYCAN; DELTA-SARCOGLYCAN; SKELETAL-MUSCLE; GENE; PROTEIN; DEFICIENCY;
Keywords:
LIMB-GIRDLE MUSCULAR DYSTROPHY; BETA-SARCOGLYCAN; SARCOGLYCAN COMPLEX; ALPHA-DYSTROGLYCAN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
42
Recensione:
Indirizzi per estratti:
Citazione:
F. Duclos et al., "BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE", Neuromuscular disorders, 8(1), 1998, pp. 30-38

Abstract

The sarcoglycan complex is involved in the etiology of four autosomalrecessive limb-girdle muscular dystrophies (LGMD2C-F). A missense mutation (T151R) in the beta-sarcoglycan gene on chromosome 4q12 has beenshown to cause a mild form of LGMD2E in 11 families from a Southern Indiana Amish community sharing a common haplotype. We now report that two sibs from another Amish family with mild LGMD2E are compound heterozygotes for chromosome 4q12 markers. In order to characterize the genetic defect in this new family, we determined the genomic organizationof the beta-sarcoglycan gene. A second missense mutation (R91C) has now been identified in this LGMD2E Amish family. This mutation is also present in the homozygous state in another family of probable Amish ancestry. Finally, analysis of all the components of the dystrophin-glycoprotein complex was performed for the first time on a biopsy from a patient homozygous for the beta-sarcoglycan mutation (T151R). Interestingly, in addition to the loss of the entire sarcoglycan complex, we detected a reduction of alpha-dystroglycan which suggests a role for thesarcoglycan complex in stabilizing alpha-dystroglycan at the sarcolemma. (C) 1998 Elsevier Science B.V.

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Documento generato il 30/11/20 alle ore 10:22:59