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Titolo:
Mutations in the caveolin-3 gene: When are they pathogenic?
Autore:
de Paula, F; Vainzof, M; Bernardino, ALF; McNally, E; Kunkel, LM; Zatz, M;
Indirizzi:
Univ Sao Paulo, Inst Biociencias, Dept Biol, Ctr Estudos Genoma Humana, BR-05508900 Sao Paulo, Brazil Univ Sao Paulo Sao Paulo Brazil BR-05508900 BC05508900 Sao Paulo, Brazil Univ Chicago, Cardiol Sect, Chicago, IL USA Univ Chicago Chicago IL USAUniv Chicago, Cardiol Sect, Chicago, IL USA Childrens Hosp, Div Genet, Boston, MA 02115 USA Childrens Hosp Boston MA USA 02115 Hosp, Div Genet, Boston, MA 02115 USA Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA Childrens Hosp Boston MA USA 02115 Hughes Med Inst, Boston, MA 02115 USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 99, anno: 2001,
pagine: 303 - 307
SICI:
0148-7299(20010401)99:4<303:MITCGW>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
GIRDLE MUSCULAR-DYSTROPHY; NITRIC-OXIDE SYNTHASE; SARCOGLYCAN COMPLEX; BETA-SARCOGLYCAN; SKELETAL-MUSCLE; PROTEIN; MAPS; FAMILY; LOCUS; FORM;
Keywords:
caveolin-3 mutations; limb-girdle muscular dystrophy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
39
Recensione:
Indirizzi per estratti:
Indirizzo: Zatz, M Univ Sao Paulo, Inst Biociencias, Dept Biol, Ctr Estudos Genoma Humana, Rua Matao 277, BR-05508900 Sao Paulo, Brazil Univ Sao Paulo Rua Matao277 Sao Paulo Brazil BR-05508900 BCrazil
Citazione:
F. de Paula et al., "Mutations in the caveolin-3 gene: When are they pathogenic?", AM J MED G, 99(4), 2001, pp. 303-307

Abstract

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic disorders usually with autosomal recessive (AR) inheritance and, less often, displaying autosomal dominant (AD) inheritance, Mutations in the caveolin-3 gene (CAV-3) associated with a reduction of protein expression cause AD-LGMD1C muscular dystrophy, Based on a previous study in the American andBrazilian population, it has been suggested that CAV-3 mutations might also cause AR-LGMD, Here we report the analysis of the CAV-3 gene in 61 additional Brazilian LGMD patients and 100 additional Brazilian normal controls, Two rare G55S and C71W missense changes previously detected only in LGMD patients (and not detected in 100 normal controls from the American population) were now found in normal Brazilian controls. In addition, we have identified a novel R125H missense change in one LGMD female patient that was alsofound in two of her unaffected siblings. These observations, together withthe normal immunofluorescence caveolin pattern in the muscle biopsy from two patients with the G55W and R125H changes in the CAV-3 gene suggest that the G55S, C71W, and R125H polymorphisms, on their own, are not sufficient to produce the pathology, (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 08:48:03