Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

Detalhes bibliográficos
Autor(a) principal: Pogue, Robert
Data de Publicação: 2001
Outros Autores: Anderson, Louise V.B., Pyle, Angela, Sewry, Caroline, Pollitt, Christine, Johnson, Margaret A., Davison, Keith, Moss, Jennifer A., Mercuri, Eugenio, Muntoni, Francesco, Bushby, Katherine M.D.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UCB
Texto Completo: http://twingo.ucb.br:8080/jspui/handle/10869/473
https://repositorio.ucb.br:9443/jspui/handle/123456789/7610
Resumo: We describe a strategy for molecular diagnosis in the autosomal recessive limb-girdle muscular dystrophies, a highly heterogeneous group of inherited muscle-wasting diseases. Genetic mutation analysis is directed by immunoanalysis of muscle biopsies using antibodies against a panel of muscular dystrophy-associated proteins. Performing the molecular analysis in this way greatly increases the chance that mutations will be found in the ®rst gene examined. The use of this strategy can signi®cantly decrease the time involved in determining the genetic fault in a patient with a clinical diagnosis of recessive limb-girdle muscular dystrophy, as well as having a feedback effect, which is useful in helping clinicians to identify subtle clinical differences between the subtypes of the disease. The use of this approach has so far helped us to identify mutations in ten sarcoglycanopathy (limb-girdle muscular dystrophy 2C±2F) patients, and seven calpainopathy (limb-girdle muscular dystrophy 2A) patients.
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spelling Pogue, RobertAnderson, Louise V.B.Pyle, AngelaSewry, CarolinePollitt, ChristineJohnson, Margaret A.Davison, KeithMoss, Jennifer A.Mercuri, EugenioMuntoni, FrancescoBushby, Katherine M.D.2016-10-10T03:52:04Z2016-10-10T03:52:04Z2001POGUE, Robert et al. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscular Disorders, v. 11, p. 80-87, 2001.9608966http://twingo.ucb.br:8080/jspui/handle/10869/473https://repositorio.ucb.br:9443/jspui/handle/123456789/7610We describe a strategy for molecular diagnosis in the autosomal recessive limb-girdle muscular dystrophies, a highly heterogeneous group of inherited muscle-wasting diseases. Genetic mutation analysis is directed by immunoanalysis of muscle biopsies using antibodies against a panel of muscular dystrophy-associated proteins. Performing the molecular analysis in this way greatly increases the chance that mutations will be found in the ®rst gene examined. The use of this strategy can signi®cantly decrease the time involved in determining the genetic fault in a patient with a clinical diagnosis of recessive limb-girdle muscular dystrophy, as well as having a feedback effect, which is useful in helping clinicians to identify subtle clinical differences between the subtypes of the disease. The use of this approach has so far helped us to identify mutations in ten sarcoglycanopathy (limb-girdle muscular dystrophy 2C±2F) patients, and seven calpainopathy (limb-girdle muscular dystrophy 2A) patients.Made available in DSpace on 2016-10-10T03:52:04Z (GMT). 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dc.title.pt_BR.fl_str_mv Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
title Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
spellingShingle Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
Pogue, Robert
Limb-girdle muscular dystrophies
Mutation analysis
Proteins
title_short Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
title_full Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
title_fullStr Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
title_full_unstemmed Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
title_sort Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
author Pogue, Robert
author_facet Pogue, Robert
Anderson, Louise V.B.
Pyle, Angela
Sewry, Caroline
Pollitt, Christine
Johnson, Margaret A.
Davison, Keith
Moss, Jennifer A.
Mercuri, Eugenio
Muntoni, Francesco
Bushby, Katherine M.D.
author_role author
author2 Anderson, Louise V.B.
Pyle, Angela
Sewry, Caroline
Pollitt, Christine
Johnson, Margaret A.
Davison, Keith
Moss, Jennifer A.
Mercuri, Eugenio
Muntoni, Francesco
Bushby, Katherine M.D.
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Pogue, Robert
Anderson, Louise V.B.
Pyle, Angela
Sewry, Caroline
Pollitt, Christine
Johnson, Margaret A.
Davison, Keith
Moss, Jennifer A.
Mercuri, Eugenio
Muntoni, Francesco
Bushby, Katherine M.D.
dc.subject.por.fl_str_mv Limb-girdle muscular dystrophies
Mutation analysis
Proteins
topic Limb-girdle muscular dystrophies
Mutation analysis
Proteins
dc.description.abstract.por.fl_txt_mv We describe a strategy for molecular diagnosis in the autosomal recessive limb-girdle muscular dystrophies, a highly heterogeneous group of inherited muscle-wasting diseases. Genetic mutation analysis is directed by immunoanalysis of muscle biopsies using antibodies against a panel of muscular dystrophy-associated proteins. Performing the molecular analysis in this way greatly increases the chance that mutations will be found in the ®rst gene examined. The use of this strategy can signi®cantly decrease the time involved in determining the genetic fault in a patient with a clinical diagnosis of recessive limb-girdle muscular dystrophy, as well as having a feedback effect, which is useful in helping clinicians to identify subtle clinical differences between the subtypes of the disease. The use of this approach has so far helped us to identify mutations in ten sarcoglycanopathy (limb-girdle muscular dystrophy 2C±2F) patients, and seven calpainopathy (limb-girdle muscular dystrophy 2A) patients.
dc.description.version.pt_BR.fl_txt_mv Sim
dc.description.status.pt_BR.fl_txt_mv Publicado
description We describe a strategy for molecular diagnosis in the autosomal recessive limb-girdle muscular dystrophies, a highly heterogeneous group of inherited muscle-wasting diseases. Genetic mutation analysis is directed by immunoanalysis of muscle biopsies using antibodies against a panel of muscular dystrophy-associated proteins. Performing the molecular analysis in this way greatly increases the chance that mutations will be found in the ®rst gene examined. The use of this strategy can signi®cantly decrease the time involved in determining the genetic fault in a patient with a clinical diagnosis of recessive limb-girdle muscular dystrophy, as well as having a feedback effect, which is useful in helping clinicians to identify subtle clinical differences between the subtypes of the disease. The use of this approach has so far helped us to identify mutations in ten sarcoglycanopathy (limb-girdle muscular dystrophy 2C±2F) patients, and seven calpainopathy (limb-girdle muscular dystrophy 2A) patients.
publishDate 2001
dc.date.issued.fl_str_mv 2001
dc.date.accessioned.fl_str_mv 2016-10-10T03:52:04Z
dc.date.available.fl_str_mv 2016-10-10T03:52:04Z
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dc.identifier.citation.fl_str_mv POGUE, Robert et al. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscular Disorders, v. 11, p. 80-87, 2001.
dc.identifier.uri.fl_str_mv http://twingo.ucb.br:8080/jspui/handle/10869/473
https://repositorio.ucb.br:9443/jspui/handle/123456789/7610
dc.identifier.issn.none.fl_str_mv 9608966
identifier_str_mv POGUE, Robert et al. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscular Disorders, v. 11, p. 80-87, 2001.
9608966
url http://twingo.ucb.br:8080/jspui/handle/10869/473
https://repositorio.ucb.br:9443/jspui/handle/123456789/7610
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