Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
DEFICIENCY OF ALPHA-ACTININ-3 (ACTN3) OCCURS IN DIFFERENT FORMS OF MUSCULAR-DYSTROPHY
Autore:
VAINZOF M; COSTA CS; MARIE SK; MOREIRA ES; REED U; PASSOSBUENO MR; BEGGS AH; ZATZ M;
Indirizzi:
UNIV SAO PAULO,FAC MED,DEPT NEUROL,CIN,LIM 15,AV DR ARNALDO 455,SALA 4110 BR-01246903 SAO PAULO BRAZIL UNIV SAO PAULO,INST BIOCIENCIAS,DEPT BIOL BR-01246903 SAO PAULO BRAZIL HARVARD UNIV,CHILDRENS HOSP,SCH MED,DIV GENET BOSTON MA 02115
Titolo Testata:
Neuropediatrics
fascicolo: 4, volume: 28, anno: 1997,
pagine: 223 - 228
SICI:
0174-304X(1997)28:4<223:DOA(OI>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
BETA-SARCOGLYCAN; MISSENSE MUTATIONS; MEROSIN DEFICIENCY; CLINICAL-FEATURES; CANDIDATE REGION; GENE; GLYCOPROTEIN; COMPLEX; LINKAGE; PROTEIN;
Keywords:
CONGENITAL MUSCULAR DYSTROPHY; ALPHA-ACTININ-3; MEROSIN; SARCOGLYCAN COMPLEX;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
42
Recensione:
Indirizzi per estratti:
Citazione:
M. Vainzof et al., "DEFICIENCY OF ALPHA-ACTININ-3 (ACTN3) OCCURS IN DIFFERENT FORMS OF MUSCULAR-DYSTROPHY", Neuropediatrics, 28(4), 1997, pp. 223-228

Abstract

The alpha-actinins belong to a superfamily of cytoskeletal proteins, and their role in human genetic diseases is still unclear. Therefore, they could be good candidates for muscular dystrophies of unknown etiology. We have analyzed alpha-actinin-3 (ACTN3) in muscle biopsies froma total of 54 patients. A complete deficiency was found in 9 patients: 2/12 with classical merosin-positive congenital MD (CMD), 1/12 with Severe Childhood Autosomal Recessive MD (DLMD), but with a positive IFpattern for the proteins of the sarcoglycan complex; 3/14 with mild limb-girdle MD (1LGMD2A and 2 yet unclassified), 1/10 with sarcoglycanopathies (LGMD2C), and 2/6 with Xp21 Duchenne MD (DMD).Patients within the same family, and with the same disease (DMD, LGMD2A, LGMD2C), werediscordant for ACTN3 deficiency. Additionally, no correlation was found with the degree of muscle degeneration, nor with the clinical course. One ACTN3-deficient CMD patient showed no mRNA expression for the muscle ACTN3 gene, but the other ACTN3-deficient patients with different forms of muscular dystrophy showed very low or no mRNA expression aswell. These results show that the deficiency of ACTN3 is a secondary effect in these dystrophies.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 08:23:00